Sperm Donor Qualification, Testing, and Screening
At Cryobank America, sperm donor qualification is a rigorous, multi-step process that prioritizes health, safety, and transparency. Every donor accepted into our program must meet strict eligibility standards and complete comprehensive sperm donor screening and testing protocols that meet or exceed FDA requirements and industry best practices. Our approach ensures that clients can move forward with confidence, knowing each donor has been carefully evaluated through medical, genetic, and laboratory review.
Sperm Donor Qualification Criteria
- Age within an approved donor range
- Overall physical and reproductive health
- No significant personal or family history of inheritable genetic conditions
- Lifestyle factors consistent with sperm quality standards
- Ability to meet ongoing participation and compliance requirements

Comprehensive Sperm Donor Screening Process
Detailed Personal and Family Medical History Review
Infectious Disease Risk Assessment
Ongoing Health Updates and Monitoring
Extensive Sperm Donor Testing
Sperm donor testing includes:
Infectious Disease Testing
Every donor completes a Medical Social Questionnaire (MSQ) alongside Infectious Disease Testing (IDT), which includes the following tests:
- Chlamydia trachomatis (C. trachomatis)
- Cytomegalovirus Antibodies (Total Antibody)
- Cytomegalovirus Antibodies (IgM fraction)
- HBV
- Hepatitis B Surface Antigen (HBsAg)
- Hepatitis B Core Antibody (HBcAb; HBc IgG-IgM)
- Hepatitis C Virus Antibody (HCV)
- HIV-1 / HCV / H / HBV NAT
- Human Immunodeficiency Virus 1, O, and 2 (HIV 1/O/2)
- Human T-Cell Lymphotropic Virus-I / II (HTLV-I / II)
- Neisseria gonorrhea (N. gonorrhea)
- Syphilis serology (Treponema pallidum)
- West Nile Virus NAT
Non-Infectious Disease Testing
All Cryobank America donors undergo additional blood chemistry testing, which includes the following analyses:
- Albumin
- Alkaline Phosphatase
- Alanine Aminotransferase (ALT)
- Aspartate Aminotransferase (AST)
- Calcium
- Cholesterol (HDL, LDL, VLDL)
- Creatinine
- Glucose
- Lactate Dehydrogenase (LDH)
- Iron (Total Fe, Fe Binding, % Saturation)
- Triglycerides
- Total Bilirubin
- Total Protein
- Urea Nitrogen
- Uric Acid
Complete Blood Count
Key blood components are carefully measured to provide a comprehensive health overview. The following parameters are carefully assessed:
- Cell morphology
- Hematocrit
- Hemoglobin
- Mean Corpuscular Hemoglobin (MCH)
- Mean Corpuscular Hemoglobin Concentration (MCHC)
- Mean Corpuscular Volume (MCV)
- Mean Platelet Volume (MPV)
- Microscopic examination of Basos
- Eos
- Lymphs
- Polys
- Red Blood
- Platelet Screen
- Red Blood Cell (RBC) Count
- White Blood Cell (WBC) Count
Urinalysis
CA donors undergo urinalysis to assess overall urinary tract health. The test evaluates the following parameters:
- Bilirubin
- Clarity
- Color
- Glucose
- Ketones
- Leukocyte esterase
- pH
- Protein
- Microscopic evaluation for squamous cells
- Casts
- Crystals
Drug Testing and Background Check
Drug use can impact sperm quality and long-term health. To protect recipients and future children, every donor must pass drug testing and a criminal background check before being approved.
Psychological Evaluation
All donors meet with a licensed mental health professional for a clinical interview. This psychological evaluation assesses emotional stability, mental health history, and overall readiness to participate responsibly in sperm donation.
Chromosome Analysis (Karyotype)
All donors undergo chromosome analysis (karyotyping) as part of sperm donor testing. This test helps identify chromosomal abnormalities that may increase the risk of genetic or developmental conditions. Samples are not approved for use until results are reviewed and cleared.
Natera Horizon Genetic Carrier Screening
Every Cryobank America donor will now have genetic carrier screening performed by Natera Laboratories, which is approved by the US Food and Drug Administration (FDA), CAP-accredited, ISO 13485-certified, and CLIA-certified, for 560 genetic conditions.
Cryobank America has continued to advance its commitment to genetic transparency by adopting the most comprehensive screening panels available.
- Donors released after July 28, 2025, have been tested using Natera’s Horizon Carrier Screen, which screens for 560 genetic conditions.
- As of July 22, 2024, all donors were tested with the Myriad Foresight Carrier Screen for 266 genetic conditions. Donors who have completed screening for 266 genetic conditions are marked with an icon.
- Donors released before July 22, 2024, were screened using the Myriad Foresight Carrier Screen for 175 genetic conditions.
These updates reflect Cryobank America’s ongoing dedication to offering the highest level of genetic insight and safety for all clients and families.
- AAAS - Triple A Syndrome; Achalasia-Addisonianism-Alacrima
- Syndrome; AAA
- ABAT - GABA-transaminase deficiency
- ABCA12 - Congenital ichthyosis: ABCA12 related
- ABCA3 - Surfactant Dysfunction, ABCA3-Related
- ABCA4 - ABCA4-related conditions
- ABCB11 - Progressive Familial Intrahepatic Cholestasis, Type 2
- ABCB4 - Progressive familial intrahepatic cholestasis, ABCB4-related
- ABCC2 - Dubin-Johnson syndrome
- ABCC6 - Pseudoxanthoma Elasticum
- ABCC8 - Familial Hyperinsulinism; Diabetes: Recessive Permanent Neonatal
- ACAD9 - Riboflavin Responsive Complex 1 Deficiency (Acyl-Coenzyme Dehydrogenase 9 Deficiency)
- ACADM - Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency
- ACADVL, VLCAD - deficiency; Very Long Chain Acyl-CoA Dehydrogenase Deficiency
- ACAT1 - Ketothiolase Deficiency; alpha-methylacetoacetic aciduria; Beta-Ketothiolase Deficiency
- ACOX1 - Acyl-CoA Oxidase I Deficiency; Peroxisomal acyl-CoA oxidase deficiency
- ACSF3 - Combined Malonic and Methylmalonic Aciduria
- ADA - Severe Combined Immunodeficiency (Adenosine Deaminase Deficiency); AR T-Cell Negative Severe Combined Immunodeficiency
- ADAMTS2 - Ehlers-Danlos Syndrome: Type VIIC; AR Ehler-Danlos Syndrome VII
- ADAMTSL4 - Isolated ectopia lentis
- ADGRV1 - Usher syndrome, type 2C
- AGA - Aspartylglucosaminuria
- AGL - Glycogen storage disease type III
- AGPS - Rhizomelic Chondrodysplasia Punctata, Type 3 (Akyl-DHAP Synthase Deficiency)
- AGXT - Primary hyperoxaluria, type I
- AHI1 - Joubert syndrome 3
- AIPL1 - Leber congenital amaurosis type AIPL1
- AIRE - Polyglandular Autoimmune Syndrome; Autoimmune Polyglandular Syndrome, Type 1
- ALDH3A2 - Sjogren-Larsson Syndrome
- ALDH7A1 - Pyridoxine-Dependent Epilepsy
- ALDOB - Hereditary fructose intolerance
- ALG1 - Congenital disorders of glycosylation type 1, ALG1-related
- ALG6 - Congenital Disorder of Glycosylation, Type 1C
- ALMS1 - Alstrom Syndrome (Early Onset Myocardial Infarction, Association with Leber Congenital Amaurosis, Diabetes Type 1)
- ALPL - Hypophosphatasia; Childhood Hypophosphatasia
- AMN - Imerslund-Gräsbeck syndrome 2
- AMT - Glycine Encephalopathy, AMT-Related
- ANO10 - Spinocerebellar Ataxia, Autosomal Recessive 10
- AP1S1 - MEDNIK syndrome
- AP3B1 - Hermansky-Pudlak syndrome 2
- AQP2 - Familial Neuropophyseal Diabetes Insipidus, Autosomal Recessive
- ARG1 - Argininemia
- ARL6 - Bardet-Biedl syndrome, ARL6-related
- ARL13B - Joubert syndrome 8
- ARSA - Metachromatic Leukodystrophy, ARSA-Related
- ARSB - Mucopolysaccharidosis, Type VI (Maroteaux-Lamy)
- ASAH1 - Farber lipogranulomatosis
- ASL - Argininosuccinate lyase deficiency; Argininosuccinic
- Aciduria
- ASNS - Asparagine Synthetase Deficiency
- ASPA - Canavan Disease
- ASS1 - Citrullinemia type I
- ATM - Ataxia-telangiectasia
- ATP6V1B1 - Renal Tubular Acidosis and deafness, ATP6V1B1-Related
- ATP7B - Wilson disease
- ATP8B1 - Cholestasis, progressive familial intrahepatic 1; Cholestasis, benign recurrent intrahepatic
- B9D1 - Joubert syndrome 27
- B9D2 - Joubert syndrome 34
- BBS1 - Bardet Biedl syndrome, BBS1-related
- BBS5 - Bardet-Biedl syndrome, BBS5-related
- BBS10 - Bardet-Biedl Syndrome, BBS10-Related
- BBS12 - Bardet-Biedl Syndrome, BBS12-Related
- BBS2 - Bardet-Biedl Syndrome, BBS2-Related
- BBS4 - Bardet-Biedl syndrome 4
- BBS7 - Bardet-Biedl syndrome 7
- BBS9 - Bardet-Biedl syndrome 9
- BCHE - Pseudocholinesterase Deficiency
- BCKDHA - Maple Syrup Urine Disease, Type 1A
- BCKDHB - Maple Syrup Urine Disease, Type 1B
- BCS1L - GRACILE (Mitochondrial Respiratory Chain Complex III Deficiency); Bjornstad disease; Leigh disease; c III deficiency
- BLM - Bloom syndrome
- BLOC1S3 - Hermansky-Pudlak syndrome, BLOC1S3-related
- BLOC1S6 - Hermansky-Pudlak syndrome, BLOC1S6-related
- BMP1 - Osteogenesis imperfecta type XIII
- BRIP1 - Fanconi anemia group J
- BSND - Bartter Syndrome; Bartter Syndrome: Type 4A
- BTD - Biotinidase deficiency
- CAD - Early infantile epileptic encephalopathy, CAD-related
- CASQ2 - Catecholaminergic polymorphic ventricular tachycardia
- C2CD3 - Orofaciodigital syndrome XIV
- CANT1 - Desbuquois dysplasia, type I
- CAPN3 - Limb-Girdle Muscular Dystrophy, Type 2A
- CBS - Homocystinuria caused by CBS deficiency; homocystinuria caused by cystathionine beta-synthase deficiency
- CC2D1A - Nonsyndromic intellectual disability
- CC2D2A - Joubert syndrome 9; COACH syndrome; Meckel Syndrome 6
- CCDC103 - Primary ciliary dyskinesia, CCDC103-related
- CCDC39 - Primary ciliary dyskinesia, CCDC39-related
- CCDC88C - Congenital Hydrocephalus 1
- CCN6 - Progressive pseudorheumatoid dysplasia
- CD3D - Severe combined immunodeficiency (SCID), CD3D-related
- CD3E - Severe combined immunodeficiency (SCID), CD3E-related
- CD40 - Hyper-IgM immunodeficiency
- CD59 - Mediated hemolytic anemia
- CDH23 - Usher syndrome type 1; Usher Syndrome, Type 1D
- CEP104 - Joubert syndrome 25
- CEP120 - Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly
- CEP152 - CEP152-related microcephaly
- CEP290 - Leber Congenital Amaurosis, Type CEP290; Joubert Syndrome 5 (JBTS5)
- CEP41 - Joubert syndrome 15
- CERKL - Retinitis Pigmentosa 26
- CFTR - Cystic Fibrosis
- CHAT - Congenital Myasthenic Syndrome, CHAT-Related
- CHRNE - Congenital Myasthenic Syndrome, CHRNE-Related
- CHRNG - Multiple pterygium syndrome; Lethal Multiple Pterygium Syndrome; Escobar Multiple Pterygium Syndrome
- CIB2 - Usher syndrome, type IJ; Deafness, autosomal recessive 48
- CIITA - Bare lymphocyte syndrome, type II; Rh arthritis susceptibility
- CLCN1 - Myotonia Congenita
- CLN3 - Batten Disease (Neuronal Ceroid Lipofuscinosis, CLN3-Related)
- CLN5 - Neuronal Ceroid Lipofuscinosis, CLN5-Related
- CLN6 - Neuronal Ceroid-Lipofuscinosis, CLN6-Related
- CLN8 - Neuronal Ceroid-Lipofuscinosis, CLN8- Related; Neuronal Ceroid Lipofuscinosis 8, Northern Epilepsy
- CLRN1 - Usher Syndrome: type 3A; Usher Syndrome, Type 3
- CNGB3 - Achromatopsia-3; Macular degeneration, juvenile; Achromatopsia, CNGB3-associated
- COL11A2 - COL11A2-related conditions
- COL17A1 - Junctional epidermolysis bullosa, COL17A1-related
- COL27A1 - Steel Syndrome
- COL4A3 - Alport syndrome, Autosomal Recessive
- COL4A4 - Alport syndrome, COL4A4-related; Hematuria, familial benign
- COL7A1 - Dystrophic Epidermolysis Bullosa, Autosomal Recessive
- COLQ - Myasthenic syndrome, congenital, 5
- COX15 - Mitochondrial complex IV deficiency, nuclear type 6
- CPLANE1 - Joubert syndrome 17; Orofaciodigital syndrome VI
- CPS1 - Carbamoyl Phosphate Synthetase I Deficiency; Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia; Familial Persistent Newborn Pulmonary Hypertension
- CPT1A - Carnitine palmitoyltransferase I deficiency
- CPT2 - Carnitine Palmitoyltransferase 2 Deficiency; Carnitine Palmitoyltransferase Ii Deficiency, Infantile; Carnitine Palmitoyltransferase II Deficiency, Late-Onset; Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal
- CRB1 - Related Retinal Dystrophies; Leber congenital amaurosis 8; Pigmented paravenous chorioretinal atrophy; Retinitis pigmentosa-12; CRB1-associated retinal dystrophies
- CRPPA - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
- CRTAP - Osteogenesis imperfecta type VII
- CSPP1 - Joubert syndrome 21
- CTNS - Cystinosis; Cystinosis, Nephropathic, CTNS; Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic; Cystinosis, Adult Nonnephropathic
- CTSA - Galactosialidosis
- CTSC - Papillon Lefèvre syndrome
- CTSD - Ceroid lipofuscinosis, neuronal, 10
- CTSK - Pycnodysostosis
- CYBA - Chronic Granulomatous Disease, Cytochrome b-negative
- CYP11A1 - Congenital Adrenal Insufficiency, CYP11A1-Related
- CYP11B1 - 11-Beta-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- CYP11B2 - Corticosterone Methyloxidase Deficiency; Congenital Hypoaldosteronism
- CYP17A1 - Congenital Adrenal Hyperplasia, 17-Alpha-Hydroxylase Deficiency; 17-alpha-hydroxylase/17,20-lyase deficiency; 17a-hydroxylase/17,20-lyase Deficiency
- CYP19A1 - Aromatase deficiency; Aromatase excess syndrome
- CYP1B1 - Primary Congenital Glaucoma
- CYP21A2 - Congenital adrenal hyperplasia; 21-hydroxylase-deficient congenital adrenal hyperplasia; 21-hydroxylase-deficient classical and non-classical congenital adrenal hyperplasia
- CYP27A1 - Cerebrotendinous xanthomatosis
- CYP27B1 - Vitamin D-dependent rickets, type I
- CYP7B1 - Hereditary spastic paraplegia, CYP7B1-related
- DBT - Maple syrup urine disease (MSUD) TYPE 2
- DCAF17 - Woodhouse-Sakati syndrome
- DCLRE1C - Severe Combined Immunodeficiency, Athabascan type; Omenn Syndrome: DCLRE1C Related; Severe Combined Immunodeficiency, Athabaskan-type (SCIDA)
- DDX11 - Warsaw breakage syndrome
- DHCR7 - Smith-Lemli-Opitz Syndrome
- DHDDS - Retinitis Pigmentosa 59; Retinitis Pigmentosa: DHDDS Related
- DIS3L2 - Perlman Syndrome
- DGAT1 - Congenital chronic diarrhea
- DGUOK - Mitochondrial DNA depletion syndrome 3
- DLD - Dihydrolipoamide Dehydrogenase Deficiency; Lipoamide
- Dehydrogenase Deficiency (Maple Syrup Urine Disease, Type III)
- DLL3 - Spondylocostal dysostosis 1
- DNAH11 - Primary ciliary dyskinesia, DNAH11-related
- DNAH5 - Primary Ciliary Dyskinesia, DNAH5-Related; Ciliary dyskinesia, primary, 3
- DNAI1 - Primary Ciliary Dyskinesia, DNAI1-Related; Ciliary dyskinesia, primary, 1
- DNAI2 - Primary Ciliary Dyskinesia, DNAI2-Related; Ciliary dyskinesia, primary, 9
- DNMT3B - Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome, DNMT3B-related
- DOK7 - Congenital Myasthenic Syndrome, DOK7-Related; Fetal akinesia deformation sequence, DOK7-related
- DPYD - Dihydropyrimidine Dehydrogenase Deficiency; hereditary thymine-uraciluria
- DUOX2 - Thyroid dyshormonogenesis 6
- DYNC2H1 - Short-Rib Thoracic Dysplasia 3 with or without Polydactyly
- DYSF - Limb Girdle Muscular Dystrophy, Type 2B; Miyoshi muscular dystrophy 1; Muscular dystrophy, limb-girdle, type 2B; Myopathy, distal, with anterior tibial onset
- EIF2AK3 - Wolcott-Rallison Syndrome; Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
- EIF2B1 - Leukoencephalopathy with vanishing white matter, EIF2B1-related
- EIF2B2 - Leukoencephalopathy with vanishing white matter, EIF2B2-related
- EIF2B3 - Leukoencephalopathy with vanishing white matter, EIF2B3-related
- EIF2B4 - Leukoencephalopathy with vanishing white matter, EIF2B4-related
- EIF2B5 - Leukoencephalopathy with Vanishing White Matter
- EPG5 - Vici syndrome
- ERCC2 - Trichothiodystrophy 1, photosensitive; Xeroderma pigmentosum, group D
- ERCC6 - Cockayne Syndrome: Type B; Cerebrooculofacioskeletal Syndrome 1, Cofs1; De Sanctis-Cacchione Syndrome
- ERCC8 - Cockayne syndrome: type A
- ESCO2 - Roberts syndrome; SC phocomelia syndrome
- ETFA - Glutaric Acidemia, Type IIa; Multiple Acyl-CoA Dehydrogenase Deficiency; MADD
- ETFB - Glutaric Acidemia: Type IIb; Multiple Acyl-CoA Dehydrogenase Deficiency; MADD
- ETFDH - Glutaric Acidemia, Type IIc; Multiple Acyl-CoA Dehydrogenase Deficiency; MADD
- ETHE1 - Ethylmalonic encephalopathy; ethylmalonic Aciduria
- EVC - Ellis-van Creveld syndrome (Weyers Acrofacial Dysostosis); Weyers acrodental dysostosis
- EVC2 - Ellis-van Creveld Syndrome
- EXOSC3 - Pontocerebellar hypoplasia
- EYS - Retinitis Pigmentosa 25; Retinitis Pigmentosa, EYS-associated
- F11 - Factor XI Deficiency; Factor XI Deficiency (Hemophilia C)
- F2 | F2 - Related conditions
- F5 | F5 - Related conditions
- FAH - Tyrosinemia type I; Tyrosinemia
- FAM161A - Retinitis Pigmentosa 28; Retinitis Pigmentosa: FAM161A Related
- FANCA - Fanconi Anemia, Group A
- FANCC - Fanconi complementation group C; Fanconi Anemia Type C; Fanconi Anemia, Group C
- FANCD2 - Fanconi anemia, complementation group D2
- FANCE - Fanconi anemia, complementation group E
- FANCF - Fanconi anemia, complementation group F
- FANCG - Fanconi Anemia, Group G; Fanconi anemia, complementation group G
- FANCI - Fanconi anemia, complementation group I
- FANCL - Fanconi anemia, complementation group L
- FBP1 - Fructose-1,6-bisphosphatase deficiency
- FBXO7 - Parkinson's disease 15
- FH - Fumarase deficiency
- FKBP10 - Osteogenesis imperfecta type XI
- FKRP - Limb Girdle Muscular Dystrophy, Type 2I; Muscular Dystrophy-Dystroglycanopathy; Muscle-Eye-Brain Disease; Muscular Dystrophy, Congenital, 1C, Mdc1C
- FKTN - Fukuyama Congenital Muscular Dystrophy; Walker-Warburg Syndrome
- FMO3 - Trimethylaminuria
- FOXN1 - Severe combined immunodeficiency (SCID), FOXN1-related
- FOXRED1 - Mitochondrial complex I deficiency, nuclear type 19
- FRAS1 - Fraser syndrome, FRAS1-related
- FREM2 - Fraser syndrome, FREM2-related
- FUCA1 - Fucosidosis
- FXN - Friedreich Ataxia
- G6PC - Glycogen Storage Disease type Ia
- G6PC3 - Congenital neutropenia, G6PC3-related
- GAA - Glycogen storage disease II; Pompe disease
- GALC - Krabbe disease; Globoid Cell Leukodystrophy
- GALE - Epimerase deficiency (galactosemia type III)
- GALK1 - Galactokinase Deficiency (Galactosemia, Type II); Galactokinase deficiency with cataracts
- GALNS - Morquio; mucopolysaccharidosis type IVA; Morquio Syndrome: Type A
- GALNT3 - Hyperphosphatemic familial tumoral calcinosis
- GALT - Galactosemia; Classical Galactosemia
- GAMT - Guanidinoacetate Methyltransferase Deficiency; Cerebral creatine deficiency syndrome 2
- GATM - Arginine: glycine amidino transferase deficiency (AGAT deficiency)
- GBA - Gaucher Disease; Gaucher Disease, I; Gaucher Disease, III; Gaucher Disease, II; Gaucher Disease, Perinatal Lethal
- GBE1 - Glycogen Storage Disease, Type IV
- GCDH - Glutaric Acidemia I; Glutaryl-CoA Dehydrogenase Deficiency; Glutaric Acidemia, Type I
- GCH1 - GCH1-related conditions
- GDF5 - GDF5-related conditions
- GFM1 - Combined Oxidative Phosphorylation Deficiency (Complex 4 Deficiency); Combined oxidative phosphorylation deficiency 1
- GHR - Laron syndrome
- GJB2 - Non-syndromic Hearing Loss and Deafness: GJB2
- GLB1 | GM1- Gangliosidase; Mucopolysaccharidosis, Type IVB (GM1 Gangliosidosis); Morquio Syndrome: Type B
- GLDC - Glycine Encephalopathy
- GLE1 - Lethal Congenital Contracture Syndrome 1 (Lethal Arthrogryposis with Anterior Horn Cell Disease); Arthrogryposis, lethal, with anterior horn cell disease; Lethal congenital contracture syndrome 1
- GNE - Inclusion body myopathy 2
- GNPAT - Rhizomelic chondrodysplasia punctata, type 2
- GNPTAB - Mucolipidosis II; Mucolipidosis II/IIIA; Mucolipidosis, type II/III alpha/beta
- GNPTG - Mucolipidosis III gamma
- GNS - Mucopolysaccharidosis, Type IIID; Sanfilippo Syndrome: Type D
- GORAB - Geroderma osteodysplastica
- GP1BA - Bernard-Soulier syndrome, type A1 (recessive); Bernard-Soulier syndrome, type A2 (dominant); von Willebrand disease, platelet-type
- GP9 - Bernard-Soulier syndrome, type C
- GPR56 - Bilateral Frontoparietal Polymicrogyria
- GRHPR - Primary hyperoxaluria type 2
- GRIP1 - Fraser Syndrome 3, GRIP1-Related
- GSS - Glutathione synthetase deficiency
- GUCY2D - Leber congenital amaurosis type GUCY2D
- GUSB - Mucopolysaccharidosis, Type VII; Sly Syndrome
- HADH - 3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4
- HADHB -Mitochondrial Trifunctional Protein Deficiency, HADHB-Related
- HAMP - Hereditary hemochromatosis type 2B
- HAX1 - Congenital Neutropenia, HAX1-Related; Neutropenia, severe congenital 3, autosomal recessive
- HBA1/HBA2 - Alpha-thalassemia
- HBB - Sickle Cell Disease/Beta-Thalassemia; Hb Beta Chain- Related Hemoglobinopathy; Beta-Hemoglobinopathies; Hemoglobinopathy Hb C, Hb D, Hb E, and Hb O
- HEXA - Tay-Sachs Disease; hexosaminidase A deficiency (including Tay-Sachs disease); beta-hexosaminidase Pseudo-deficiency
- HEXB - Sandhoff disease
- HFE - Hereditary hemochromatosis type 1
- HFE2 - Hemochromatosis, Type 2A; Hemochromatosis, Juvenile; Jh; Hereditary Hemochromatosis, HFE2-Related
- HGD - Alkaptonuria
- HGSNAT - Mucopolysaccharidosis type IIIC (Sanfilippo C); Retinitis pigmentosa 73; Sanfilippo, Type C
- HLCS - Holocarboxylase Synthetase Deficiency; Holocarboxylase Synthetase Deficiency (Multiple Carboxylase Deficiency)
- HMGCL - HMG-CoA Lyase Deficiency; 3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency
- HOGA1 - Primary Hyperoxaluria, Type 3
- HMOX1 - Heme oxygenase 1 deficiency
- HPS1 - Hermansky-Pudlak Syndrome, HPS1-Related; Hermansky-Pudlak syndrome 1;
- HPS3 - Hermansky-Pudlak Syndrome: HPS3 Related; Hermansky-Pudlak syndrome
- HPS4 - Hermansky-Pudlak Syndrome: HPS4 Related
- HPS5 - Hermansky-Pudlak syndrome, HPS5-related
- HPS6 - Hermansky-Pudlak syndrome, HPS6-related
- HSD17B3 - 17-Beta-Hydroxysteroid Dehydrogenase Type III Deficiency
- HSD17B4 - D-Bifunctional Protein Deficiency
- HSD3B2 - 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency; Adrenal hyperplasia, congenital
- HYAL1 - Mucopolysaccharidosis Type IX
- HYLS1 - Hydrolethalus Syndrome; Hydrolethalus Syndrome 1
- IDUA - Hurler Syndrome; Mucopolysaccharidosis, Type I (Hurler Syndrome)
- IGHMBP2 - Spinal muscular atrophy with respiratory distress type 1
- IKBKAP - Familial Dysautonomia; Neuropathy, Hereditary Sensory and Autonomic, III; Hsan3
- IKBKB - Severe combined immunodeficiency (SCID), IKBKB-related
- IL7R - Severe combined immunodeficiency (SCID), IL7R-related
- INPP5E - Joubert Syndrome
- INVS - Juvenile Nephronophthisis
- ITGA6 - Junctional epidermolysis bullosa, ITGA6-related
- ITGB3 - Glanzmann thrombasthenia
- ITGB4 - Junctional epidermolysis bullosa, ITGB4-related
- IQCB1 - Senior-Loken syndrome 5
- IVD - Isovaleric acidemia
- JAK3 - Severe combined immunodeficiency (SCID), JAK3-related
- KCNJ1 - Bartter syndrome, KCNJ1-related
- KCNJ11 - Hyperinsulinemic Hypoglycemia; Diabetes mellitus; maturity-onset diabetes of the young (MODY), type 13; Familial hyperinsulinism, KCNJ11-related
- LAMA2 | LAMA2 - Related Muscular Dystrophy; Muscular Dystrophy, Congenital Merosin-Deficient, 1A; Mdc1A
- LAMA3 - Epidermolysis Bullosa, Junctional, Herlitz; Herlitz Junctional Epidermolysis Bullosa, LAMA3-Related; Laryngoonychocutaneous Syndrome; Epidermolysis Bullosa, Junctional, Non-Herlitz
- LAMB3 - Epidermolysis Bullosa, Junctional, Herlitz; Herlitz Junctional Epidermolysis Bullosa, LAMB3-Related; Epidermolysis Bullosa, Junctional, Non-Herlitz
- LAMC2 - Epidermolysis Bullosa, Junctional, Herlitz; Herlitz Junctional Epidermolysis Bullosa, LAMC2-Related; Epidermolysis Bullosa, Junctional, Non-Herlitz
- LARGE1 - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
- LCA5 - Leber Congenital Amaurosis; Leber congenital amaurosis 5
- LDLR - Familial Hypercholesterolemia, LDLR-Related
- LDLRAP1 - Familial Hypercholesterolemia, LDLRAP1-Related
- LHX3 - Pituitary Hormone Deficiency, Combined 3; Pituitary Dwarfism III
- LIFR - Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome
- LIG4 - LIG4 syndrome
- LIPA - Wolman Disease; cholesteryl ester storage disease
- LMBRD1 - Methylmalonic acidemia and homocystinuria type cblF
- LOXHD1 - Deafness, autosomal recessive 77; Nonsyndromic Hearing Loss and Deafness: LOXHD1 Related
- LPL - Lipoprotein lipase deficiency; Combined hyperlipidemia, familial
- LRAT - LRAT-related conditions
- LRP2 - Donnai-Barrow Syndrome
- LRPPRC - Leigh Syndrome: French-Canadian Type
- LYST - Chediak-Higashi syndrome
- MAK - Retinitis pigmentosa 62
- MANBA - Beta-mannosidosis
- MAN2B1 - Alpha-Mannosidosis; Mannosidosis, Alpha B, Lysosomal
- MCCC1 - 3-Methylcrotonyl-CoA carboxylase 1 deficiency; 3- Methylcrotonyl-CoA Carboxylase Deficiency: MCCA Related
- MCCC2 - 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 3-
- Methylcrotonyl-CoA Carboxylase Deficiency: MCCB Related
- MCEE - Methylmalonic aciduria, MCEE-related
- MCOLN1 - Mucolipidosis IV
- MCPH1 - Primary Microcephaly 1, Autosomal Recessive
- MECR - MECR-related neurologic disorder
- MED17 - Infantile Cerebral and Cerebellar Atrophy; Microcephaly, postnatal progressive, with seizures and brain atrophy
- MEFV - Familial Mediterranean Fever
- MESP2 - Spondylothoracic Dysostosis; Spondylocostal dysostosis 2
- MFSD8 - Neuronal Ceroid Lipofuscinosis, MFSD8-Related; Ceroid lipofuscinosis, neuronal, 7; Macular dystrophy with central cone involvement
- MKKS - Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome
- MKS1 - Meckel-Gruber Syndrome, Type 1; Meckel syndrome 1;
- Meckel-Gruber Syndrome
- MLC1 - Megalencephalic leukoencephalopathy with subcortical cysts
- MLYCD - Malonyl-CoA decarboxylase deficiency
- MMAA - Methylmalonic Aciduria, MMAA-Related; Methylmalonic aciduria, vitamin B12-responsive; Methylmalonic aciduria, cblA type
- MMAB - Methylmalonic Aciduria, MMAB-Related; Methylmalonic aciduria, vitamin B12-responsive; Methylmalonic aciduria, cblB type
- MMACHC - Methylmalonic aciduria and homocystinuria Type cblC;
- Methylmalonic Aciduria and Homocystinuria, Cobalamin C
- MMADHC - Methylmalonic Aciduria and Homocystinuria, Type cblD; Methylmalonic aciduria and homocystinuria
- MOCS1 - Molybdenum cofactor deficiency A
- MOCS2 - Molybdenum cofactor deficiency type B
- MPI - Congenital Disorder of Glycosylation: Type 1B: MPI Related
- MPL - Congenital Amegakaryocytic Thrombocytopenia
- MPV17 - Mitochondrial DNA Depletion Syndrome 6 (Hepatocerebral Type); Navajo Neurohepatopathy
- MRE11 - Ataxia-telangiectasia-like disorder
- MTHFR - Homocystinuria due to deficiency of MTHFR; MTHFR Deficiency: Severe
- MTR - Homocystinuria and megaloblastic anemia type cblG
- MTRR - Homocystinuria, Type cblE; Homocystinuria-megaloblastic anemia, cbl E type; Neural tube defects, folate-sensitive
- MTTP - Abetalipoproteinemia
- MUSK - MUSK-related congenital myasthenic syndrome
- MUT - Methylmalonic aciduria, mut(0) type
- MVK - Mevalonic Kinase Deficiency
- MYO15A - Nonsyndromic Hearing Loss and Deafness: MYO15A Related
- MYO7A - Usher Syndrome Type 1; Usher Syndrome, Type 1B; Deafness, Neurosensory, AR 2; DFNB2
- MAK - Retinitis pigmentosa 62
- MANBA - Beta-mannosidosis
- MAN2B1 - Alpha-Mannosidosis; Mannosidosis, Alpha B, Lysosomal
- MCCC1 - 3-Methylcrotonyl-CoA carboxylase 1 deficiency; 3- Methylcrotonyl-CoA Carboxylase Deficiency: MCCA Related
- MCCC2 - 3-Methylcrotonyl-CoA carboxylase 2 deficiency; 3-
- Methylcrotonyl-CoA Carboxylase Deficiency: MCCB Related
- MCEE - Methylmalonic aciduria, MCEE-related
- MCOLN1 - Mucolipidosis IV
- MCPH1 - Primary Microcephaly 1, Autosomal Recessive
- MECR - MECR-related neurologic disorder
- MED17 - Infantile Cerebral and Cerebellar Atrophy; Microcephaly, postnatal progressive, with seizures and brain atrophy
- MEFV - Familial Mediterranean Fever
- MESP2 - Spondylothoracic Dysostosis; Spondylocostal dysostosis 2
- MFSD8 - Neuronal Ceroid Lipofuscinosis, MFSD8-Related; Ceroid lipofuscinosis, neuronal, 7; Macular dystrophy with central cone involvement
- MKKS - Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome
- MKS1 - Meckel-Gruber Syndrome, Type 1; Meckel syndrome 1;
- Meckel-Gruber Syndrome
- MLC1 - Megalencephalic leukoencephalopathy with subcortical cysts
- MLYCD - Malonyl-CoA decarboxylase deficiency
- MMAA - Methylmalonic Aciduria, MMAA-Related; Methylmalonic aciduria, vitamin B12-responsive; Methylmalonic aciduria, cblA type
- MMAB - Methylmalonic Aciduria, MMAB-Related; Methylmalonic aciduria, vitamin B12-responsive; Methylmalonic aciduria, cblB type
- MMACHC - Methylmalonic aciduria and homocystinuria Type cblC;
- Methylmalonic Aciduria and Homocystinuria, Cobalamin C
- MMADHC - Methylmalonic Aciduria and Homocystinuria, Type cblD; Methylmalonic aciduria and homocystinuria
- MOCS1 - Molybdenum cofactor deficiency A
- MOCS2 - Molybdenum cofactor deficiency type B
- MPI - Congenital Disorder of Glycosylation: Type 1B: MPI Related
- MPL - Congenital Amegakaryocytic Thrombocytopenia
- MPV17 - Mitochondrial DNA Depletion Syndrome 6 (Hepatocerebral Type); Navajo Neurohepatopathy
- MRE11 - Ataxia-telangiectasia-like disorder
- MTHFR - Homocystinuria due to deficiency of MTHFR; MTHFR Deficiency: Severe
- MTR - Homocystinuria and megaloblastic anemia type cblG
- MTRR - Homocystinuria, Type cblE; Homocystinuria-megaloblastic anemia, cbl E type; Neural tube defects, folate-sensitive
- MTTP - Abetalipoproteinemia
- MUSK - MUSK-related congenital myasthenic syndrome
- MUT - Methylmalonic aciduria, mut(0) type
- MVK - Mevalonic Kinase Deficiency
- MYO15A - Nonsyndromic Hearing Loss and Deafness: MYO15A Related
- MYO7A - Usher Syndrome Type 1; Usher Syndrome, Type 1B; Deafness, Neurosensory, AR 2; DFNB2
- NAGA - Schindler Disease
- NAGLU - Mucopolysaccharidosis, Type IIIB (Sanfilippo B); Charcot-Marie-Tooth disease, axonal, type 2V; Sanfilippo, Type B
- NAGS - N-acetylglutamate Synthase Deficiency
- NBN - Nijmegen breakage syndrome
- NCF2 - Chronic granulomatous disease, NCF2-related
- NDRG1 - Charcot-Marie-Tooth Disease, Type 4D
- NDUFAF2 - Mitochondrial complex I deficiency, nuclear type 10
- NDUFAF5 - Mitochondrial Complex 1 Deficiency, NDUFAF5-Related
- NDUFAF6 - Molybdenum cofactor deficiency A
- NDUFS4 - Mitochondrial complex I deficiency, nuclear type 1
- NDUFS6 - Mitochondrial Complex 1 Deficiency, NDUFS6-Related
- NDUFS7 - Mitochondrial complex I deficiency, nuclear type 3
- NDUFV1 - Mitochondrial complex I deficiency, nuclear type 4
- NEB - NEB-related Nemaline Myopathy
- NEU1 - Sialidosis, Type II ; Mucolipidosis Type I; Neuraminidase Deficiency
- NGLY1 - Congenital disorder of glycosylation
- NPC1 - Niemann-Pick Disease, Type C; Niemann Pick Disease, Type C1/D
- NPC2 - Niemann Pick Disease, Type C2
- NPHP1 - Juvenile Nephronophthisis 1; Senior-Loken Syndrome 1; SLSN1; Joubert Syndrome 4; JBTS4
- NPHP3 - Juvenile Nephronophthisis; Renal-Hepatic-Pancreatic Dysplasia; RHPD
- NPHP4 - Senior-Loken syndrome 4
- NPHS1 - Nephrotic Syndrome: Type 1; Congenital Finnish Nephrosis
- NPHS2 - Nephrotic Syndrome: Type 2; Steroid-Resistant Nephrotic Syndrome
- NR2E3 - Enhanced S-Cone Syndrome (Goldmann-Favre Syndrome)
- NSMCE3 - Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS)
- NTRK1 - Congenital Insensivity to Pain with Anhidrosis (CIPA); Insensitivity to pain, congenital, with anhidrosis; Medullary thyroid carcinoma, familial
- OAT - Ornithine Aminotransferase Deficiency; Gyrate atrophy of choroid and retina with or without ornithinemia
- OCA2 - Oculocutaneous Albinism, OCA2-Related
- OPA3 - Costeff Disease Optic Atrophy (3-Methylglutaconic Aciduria, Type III); 3-methylglutaconic aciduria, type III
- OSTM1 - Osteopetrosis, OSTM1-related
- OTOA - Nonsyndromic hearing loss, OTOA-related
- OTOF - Nonsyndromic hearing loss, OTOF-related
- P3H1 - Osteogenesis imperfecta type VIII
- PAH - Phenylketonuria; phenylalanine hydroxylase deficiency
- PANK2 - Pantothenate kinase-associated neurodegeneration
- PC - Pyruvate carboxylase deficiency
- PCBD1 - Pterin-4 alpha-carbinolamine dehydratase (PCD) deficiency
- PCCA - Propionic acidemia, alpha subunit; Propionic Acidemia: PCCA Related
- PCCB - Propionic acidemia, beta subunit; Propionic Acidemia:
- PCCB Related
- PCDH15 - Usher syndrome type 1; Usher Syndrome, Type 1F
- PCNT - Microcephalic osteodysplastic primordial dwarfism type II
- PDHB - Pyruvate Dehydrogenase Deficiency, Autosomal Recessive; Pyruvate dehydrogenase E1-beta deficiency
- PEPD - Prolidase Deficiency
- PET100 - Mitochondrial complex IV deficiency
- PEX1 - Zellweger Spectrum Disorders; PEX1-related Zellweger syndrome spectrum
- PEX10 - Zellweger Spectrum Disorders, PEX10-Related; Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B
- PEX12 - Peroxisome biogenesis disorder 3A and 3B (Zellweger)
- PEX13 - Zellweger spectrum disorder, PEX13-related
- PEX16 - Zellweger spectrum disorder, PEX16-related
- PEX2 - Zellweger syndrome
- PEX26 - Zellweger syndrome
- PEX5 - Zellweger spectrum disorder, PEX5-related
- PEX6 - Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B; Heimler syndrome 2; Zellweger Spectrum Disorders, PEX6-Related
- PEX7 - Rhizomelic Chondrodysplasia Punctata Type 1
- PFKM - Glycogen Storage Disease, Type VII
- PGM3 - Congenital disorder of glycosylation
- PHGDH - Phosphoglycerate Dehydrogenase Deficiency; 3- Phosphoglycerate Dehydrogenase Deficiency
- PHKB - Glycogen storage disease type Ixb
- PHKG2 - Glycogen storage disease type Ixc
- PHYH - Refsum disease
- PIGN - Congenital disorder of glycosylation
- PJVK - Nonsyndromic hearing loss, PJVK-related
- PKHD1 - Autosomal Recessive Polycystic Kidney Disease
- PLA2G6 - Infantile Neuroaxonal Dystrophy 1
- PLCE1 - Nephrotic syndrome
- PLEKHG5 - Charcot-Marie-Tooth disease, recessive intermediate C
- PLOD1 - Ehlers-Danlos syndrome type VI
- PMM2 - Congenital Disorder of Glycosylation: Type 1A: PMM2 Related
- PNPO - Pyridoxal 5'-phosphate-dependent epilepsy
- POLG - POLG-Related Disorders; Ataxia Neuropathy Spectrum (ANS); Alpers Diffuse Cerebral Degeneration with Hepatic Cirrhosis
- POLH - Xeroderma pigmentosum variant type
- POMGNT1 - Muscle-Eye-Brain Disease, POMGNT1-Related (Muscular dystrophy-dystroglycanopathy, Type C)
- POMT1 - Walker-Warburg syndrome
- POMT2 - Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2
- POR - Cytochrome P450 oxioreductase deficiency
- POU1F1 - Combined pituitary hormone deficiency 1
- PPT1 - Neuronal Ceroid-Lipofuscinosis, PPT1-related
- PRCD - Retinitis pigmentosa 36
- PRDM5 - Brittle cornea syndrome 2
- PRF1 - Familial hemophagocytic lymphohistiocytosis
- PROP1 - PROP1-Related Combined Pituitary Hormone Deficiency; Combined Pituitary Hormone Deficiency-2; Pituitary Dwarfism III
- PSAP - Metachromatic Leukodystrophy (Gaucher Disease, Atypical); Krabbe Disease, Atypical; Gaucher Disease, Atypical; Combined Saposin Deficiency
- PTPRC - Severe combined immunodeficiency (SCID), PTPRC-related
- PTS - Six-pyruvoyl-tetrahydropterin synthase (PTPS) deficiency; 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
- PUS1 - Mitochondrial Myopathy and Sideroblastic Anemia (MLAS1); Myopathy, lactic acidosis, and sideroblastic anemia 1
- PYGM - Glycogen Storage Disease, Type V (McArdle Disease)
- QDPR - Dihydropteridine reductase (DHPR) deficiency
- RAB23 - Carpenter Syndrome
- RAG1 - Severe Combined Immunodeficiency, Rag1-Related; Severe Combined Immunodeficiency, AR, T Cell-Negative; Omenn Syndrome
- RAG2 - Omenn Syndrome; Severe combined immunodeficiency, B cell-negative; Combined cellular and humoral immune defects with granulomas
- RAPSN - Congenital Myasthenic Syndrome, RAPSN-Related; Fetal Akinesia Dentation Sequence; FADS
- RARS2 - Pontocerebellar Hypoplasia; Pontocerebellar hypoplasia, type 6
- RDH12 - Leber Congenital Amaurosis, Type RDH12; Leber congenital amaurosis 13
- RLBP1 - RLBP1-related retinopathy
- RMRP - Cartilage-Hair Hypoplasia; Anauxetic Dysplasia
- RNASEH2A - Aicardi-Goutieres syndrome
- RNASEH2B - Aicardi-Goutieres syndrome
- RNASEH2C - Aicardi-Goutieres syndrome
- RPE65 - Leber Congenital Amaurosis 2 (Retinitis Pigmentosa 20); Retinal Dystrophies: RPE65 Related
- RPGRIP1L - Ciliopathies, RPGRIP1L-Related; Meckel syndrome 5; Joubert syndrome 7; COACH syndrome
- RTEL1 - Dyskeratosis Congenita, Autosomal Recessive
- RXYLT1 - Muscular dystrophy-dystroglycanopathy
- RYR1 - RYR1-related conditions
- SACS - Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- SAMD9 - Normophosphatemic tumoral calcinosis
- SAMHD1 - Aicardi-Goutières Syndrome; Chilblain lupus 2
- SBDS - Shwachman-Diamond syndrome
- SCARB2 - Action Myoclonus – Renal Failure Syndrome (SCARB2)
- SCO2 - Mitochondrial Complex IV Deficiency, Nuclear Type 2, SCO2-Related
- SEC23B - Congenital dyserythropoietic anemia type 2
- SEPSECS - Progressive Cerebello-Cerebral Atrophy; Pontocerebellar hypoplasia type 2D
- SERPINA1 - Alpha-1 Antitrypsin Deficiency; Protease Inhibitor 1; PI
- SGCA - Limb-Girdle Muscular Dystrophy, Type 2D; LGMD2D
- SGCB - Limb-Girdle Muscular Dystrophy, Type 2E
- SGCD - Limb-Girdle Muscular Dystrophy, Type 2F
- SGCG - Limb-Girdle Muscular Dystrophy, Type 2C
- SGSH - Mucopolysaccharidosis, Type IIIA (Sanfilippo Syndrome A); Sanfilippo, Type A
- SKIC2 - Trichohepatoenteric syndrome, SKIC2-related
- SLC12A1 - Bartter syndrome, SLC12A1-related
- SLC12A3 - Gitelman Syndrome
- SLC12A6 - Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum; Andermann Syndrome; Agenesis of the Corpus Callosum with Peripheral Neuropathy; ACCPN
- SLC17A5 - Salla Disease/ Infantile Sialic Acid Storage Disease; Sialuria, Finnish
- SLC19A2 - Thiamine-responsive megaloblastic anemia syndrome
- SLC19A3 - Biotin-Thiamine-Responsive Basal Ganglia Disease (BTBGD)
- SLC1A4 - Developmental delay and microencephaly (SLC1A4-related)
- SLC22A5 - Carnitine deficiency, systemic primary
- SLC25A13 - Citrin Deficiency
- SLC25A15 - Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome (HHH Syndrome); ornithine translocase deficiency
- SLC25A20 - Carnitine-acylcarnitine translocase deficiency
- SLC26A2 - Achondrogenesis type 1B/ Atelosteogenesis Type 2; Achondrogenesis, Type 1B (Diastrophic Dysplasia); Sulfate transporter-related osteochondrodysplasia
- SLC26A3 - Congenital secretory chloride diarrhea 1
- SLC26A4 - Pendred Syndrome
- SLC27A4 - Autosomal recessive congenital ichthyosis (ARCI), SLC27A4-related
- SLC35A3 - Arthrogryposis, Mental Retardation and Seizures; Autism Spectrum, Epilepsy and Arthrogryposis
- SLC37A4 - Glycogen Storage Disease Type Ib; Glycogen Storage Disease Ic
- SLC38A8 - Foveal hypoplasia
- SLC39A4 - Acrodermatitis Enteropathica
- SLC45A2 - Oculocutaneous albinism type IV
- SLC4A11 - Corneal Dystrophy and Perceptive Deafness; Corneal endothelial dystrophy and perceptive deafness; Corneal dystrophy, Fuchs endothelial, 4
- SLC4A4 - Renal tubular acidosis
- SLC5A5 -Thyroid dyshormonogenesis 1
- SLC7A7 - Lysinuric protein intolerance
- SMARCAL1 - Schimke Immunoosseous Dysplasia
- SMN1 - Spinal Muscular Atrophy; Spinal Muscular Atrophy, I;
- SMA1; Spinal Muscular Atrophy, III; SMA3; Spinal Muscular Atrophy, Ii; SMA2
- SMPD1 - Niemann-Pick disease type A; Niemann-Pick Disease, Types A/B; Niemann-Pick disease, SMPD1-associated
- SNAP29 - Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma (CEDNIK) syndrome
- SPG11 - SPG11-related conditions
- SPR - Sepiapterin reductase deficiency
- SRD5A2 - 5-alpha-reductase deficiency
- ST3GAL5 - Amish infantile epilepsy syndrome
- STAR - Lipoid Adrenal Hyperplasia; Congenital Lipoid Adrenal Hyperplasia
- STX11 - Gitelman syndrome
- STXBP2 - Familial hemophagocytic lymphohistiocytosis
- SUMF1 - Multiple Sulphatase Deficiency; Multiple Sulfatase Deficiency
- SUOX - Isolated sulfite oxidase deficiency
- SURF1 - SURF1-related conditions
- SYNE4 - Nonsyndromic hearing loss, SYNE4-related
- TANGO2 - Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration
- TAT - Tyrosinemia: Type II
- TBCD - Progressive early-onset encepahlopathy with brain atrophy and thin corpus callosum
- TBCE - TBCE-related conditions
- TCIRG1 - Osteopetrosis, Infantile Malignant (Osteopetrosis, autosomal recessive); Osteopetrosis, autosomal recessive 1
- TCN2 - Transcobalamin II deficiency
- TECPR2 - Hereditary Spastic Paraparesis, Type 49; Spastic paraplegia 49
- TERT - Dyskeratosis congenita spectrum disorders
- TF - Atransferrinemia
- TFR2 - Hemochromatosis, Type 3, TFR2-Related
- TG - Thyroid dyshormonogenesis 3
- TGM1 - Autosomal Recessive Congenital Ichthyosis, TGM1 related; Lamellar Ichthyosis, Type 1
- TH - Tyrosine hydroxylase deficiency; Segawa Syndrome, Autosomal Recessive
- TJP2 - Cholestasis, progressive familial intrahepatic 4; Hypercholanemia, familial
- TK2 - Mitochondrial DNA depletion syndrome 2
- TMC1 - Nonsyndromic hearing loss, TMC1-related
- TMEM216 - Joubert Syndrome, TMEM216 Related; Joubert Syndrome 2
- TMEM67 - Joubert syndrome and related disorders (JSRD), TMEM67-related
- TMPRSS3 - Nonsyndromic hearing loss, TMPRSS3-related
- TNXB - Ehlers-Danlos Syndrome, Classic-Like, TNXB-Related
- TPO - Thyroid dyshormonogenesis 2A
- TPP1 - Neuronal Ceroid-Lipofuscinosis, TPP1-related
- TREX1 - Aicardi-Goutières syndrome, TREX1-related
- TRIM32 - Limb-girdle muscular dystrophy type 8
- TRIM37 - Mulibrey nanism
- TRMU - Acute Infantile Liver Failure; Liver failure, transient infantile; Deafness, mitochondrial
- TSEN2 - Pontocerebellar hypoplasia type 2B
- TSEN54 - Pontocerebellar Hypoplasia; Pontocerebellar Hypoplasia 4; PCH4; Pontocerebellar Hypoplasia 2A; PCH2A
- TSFM - Combined oxidative phosphorylation deficiency 3
- TSHB - Isolated thyroid-stimulating hormone deficiency
- TSHR - TSHR-related conditions
- TTC37 - Trichohepatoenteric Syndrome: Type 1
- TTC8 - Bardet-Biedl syndrome 8
- TTPA - Ataxia with Vitamin E Deficiency; Vitamin E, Familial Isolated Deficiency Of; VED
- TULP1 - Leber congenital amaurosis type TULP1
- TYMP - Myoneurogastrointestinal Encephalopathy (MNGIE); Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- TYR - Oculocutaneous Albinism, Type 1A and 1B
- TYRP1 - Oculocutaneous albinism type III
- UBR1 - Johanson-Blizzard syndrome
- UNC13D - familial hemophagocytic lymphohistiocytosis, UNC13D-related
- UPB1 - Beta-ureidopropionase deficiency
- USH1C - Usher syndrome type 1; Usher Syndrome, Type 1C
- USH2A - Usher Syndrome: Type 2A; Usher Syndrome, Type II
- VDR - Vitamin D-dependent rickets type 2A
- VLDLR - VLDLR-associated cerebellar hypoplasia
- VPS11 - Hypomyelinating leukodystrophy 12
- VPS13A - Choreoacanthocytosis
- VPS13B - Cohen Syndrome
- VPS45 - Congenital Neutropenia, VPS45-Related; Neutropenia, severe congenital, 5
- VPS53 - Congenital adrenal hyperplasia; Pontocerebellar Hypoplasia: VPS53 Related
- VRK1 - Pontocerebellar Hypoplasia, Type 1A
- VSX2 - Microphthalmia/anophthalmia; Microphthalmia, isolated 2; Microphthalmia with coloboma 3
- WNT10A - Odontoonychodermal Dysplasia (Schopf-Schulz- Passarge Syndrome); Tooth agenesis, selective, 4
- WRN - Werner Syndrome
- WWOX - Spinocerebellar ataxia-12
- XPA - Xeroderma Pigmentosum: Group A; De Sanctis- Cacchione Syndrome; Xeroderma Pigmentosum, Complementation Group A; XPA
- XPC - Xeroderma Pigmentosum: Group C
- ZBTB24 - Immunodeficiency-centromeric instability-facial anomalies (ICF) syndrome, ZBTB24-related
- ZFYVE26 - Spastic paraplegia, ZFYVE26-related
- ZNF469 - Brittle cornea syndrome 1
- 3-methylcrotonyl-CoA Carboxylase Deficiency, MCC2-related
- 6-pyruvoyl-tetrahydropterin Synthase Deficiency
- Abetalipoproteinemia
- Achromatopsia, CNGB3-related
- Acute Liver Failure, TRMU-related
- Adenosine Deaminase Deficiency
- Aicardi-Goutières Syndrome
- Aldosterone Synthase Deficiency
- Alkaptonuria
- Alpha Thalassemia, HBA1/HBA2-related
- Alpha-1 Antitrypsin Deficiency
- Alpha-mannosidosis
- Alpha-sarcoglycanopathy
- Alport Syndrome, COL4A3-related
- Alport Syndrome, COL4A4-related
- Alstrom Syndrome
- Andermann Syndrome
- Argininemia
- Argininosuccinic Aciduria
- Arthrogryposis, Impaired Intellectual Development, and Seizures
- ARX-related Disorders
- Asparagine Synthetase Deficiency
- Aspartylglucosaminuria
- Ataxia with Vitamin E Deficiency
- Ataxia-telangiectasia
- ATP7A-related Disorders
- Atransferrinemia
- Autoimmune Polyglandular Syndrome Type 1
- Autosomal Recessive Osteopetrosis Type 1
- Autosomal Recessive Polycystic Kidney Disease, PKHD1-related
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
- Bardet-Biedl Syndrome, BBS1-related
- Bardet-Biedl Syndrome, BBS10-related
- Bardet-Biedl Syndrome, BBS12-related
- Bardet-Biedl Syndrome, BBS2-related
- BCS1L-related Disorders
- Beta Globin-related Hemoglobinopathy (Including Beta Thalassemia and Sickle Cell Disease)
- Beta-ketothiolase Deficiency
- Beta-sarcoglycanopathy
- Biotin-thiamine–responsive Basal Ganglia Disease
- Biotinidase Deficiency
- Bloom Syndrome
- Calpainopathy
- Canavan Disease
- Carbamoylphosphate Synthetase I Deficiency
- Carnitine Palmitoyltransferase IA Deficiency
- Carnitine Palmitoyltransferase II Deficiency
- Cartilage-hair Hypoplasia
- CC2D2A-related Disorders -
- CEP290-related Disorders
- Cerebrotendinous Xanthomatosis
- Chronic Granulomatous Disease, CYBA-related
- Citrullinemia Type 1 -
- Classical-like Ehlers-Danlos Syndrome, TNXB-related
- CLN3-related Disorders
- CLN5-related Neuronal Ceroid Lipofuscinosis
- CLN8-related Neuronal Ceroid Lipofuscinosis
- Cohen Syndrome
- Combined Pituitary Hormone Deficiency, PROP1-related
- Congenital Adrenal Hyperplasia, CYP11A1-related
- Congenital Adrenal Hyperplasia, CYP11B1-related -
- Congenital Adrenal Hyperplasia, CYP21A2-related
- Congenital Amegakaryocytic Thrombocytopenia
- Congenital Disorder of Glycosylation Type Ic
- Congenital Disorder of Glycosylation, MPI-related
- Congenital Disorder of Glycosylation, PMM2-related
- Congenital Hydrocephalus, CCDC88C-related
- Congenital Insensitivity to Pain with Anhidrosis, NTRK1-related -
- Congenital Myasthenic Syndrome, CHRNE-related
- Costeff Optic Atrophy Syndrome - Gene
- Creatine Transporter Deficiency
- Cystic Fibrosis
- Cystinosis
- D-bifunctional Protein Deficiency
- Delta-sarcoglycanopathy
- Dihydrolipoamide Dehydrogenase Deficiency
- Dihydropyrimidine Dehydrogenase Deficiency
- Distal Renal Tubular Acidosis with Deafness, ATP6V1B1-related
- Donnai–Barrow Syndrome
- DYNC2H1-related Disorders
- Dysferlinopathy
- Dystrophic Epidermolysis Bullosa
- Dystrophinopathy (Including Duchenne/Becker Muscular Dystrophy)
- Ehlers-Danlos Syndrome, ADAMTS2-related
- Enhanced S-cone Syndrome
- ERCC2-related Disorders
- ERCC6-related Disorders
- ERCC8-related Disorders
- EVC-related Ellis-van Creveld Syndrome
- EVC2-related Ellis-van Creveld Syndrome
- Fabry Disease
- Factor XI Deficiency
- Familial Dysautonomia
- Familial Hemophagocytic Lymphohistiocytosis, PRF1-related -
- Familial Hyperinsulinism, ABCC8-related
- Familial Hyperinsulinism, KCNJ11-related -
- Familial Mediterranean Fever -
- Fanconi Anemia Complementation Group A
- Fanconi Anemia, FANCC-related
- FKRP-related Disorders
- FKTN-related Disorders
- Fragile XE Syndrome
- Fraser Syndrome, GRIP1-related
- Free Sialic Acid Storage Disorders
- Galactokinase Deficiency
- Galactosemia
- Gamma-sarcoglycanopathy
- Gaucher Disease
- GJB2-related DFNB1 Nonsyndromic Hearing Loss and Deafness -
- GLB1-related Disorders -
- Glucose-6-phosphate Dehydrogenase Deficiency
- Glutaric Acidemia, GCDH-related
- Glycine Encephalopathy, AMT-related
- Glycine Encephalopathy, GLDC-related -
- Glycogen Storage Disease Type Ia
- Glycogen Storage Disease Type Ib
- Glycogen Storage Disease Type III -
- Glycogen Storage Disease, GBE1-related
- Glycogen Storage Disease, PFKM-related
- Glycogen Storage Disease, PYGM-related
- GNE Myopathy -
- GNPTAB-related Disorders
- HADHA-related Disorders -
- Hearing Loss and Deafness, LOXHD1-related
- Hemophilia B
- Hereditary Fructose Intolerance
- Hermansky-Pudlak Syndrome, HPS1-related
- Hermansky-Pudlak Syndrome, HPS3-related
- Hexosaminidase A Deficiency (Including Tay-Sachs Disease)
- HMG-CoA Lyase Deficiency
- Holocarboxylase Synthetase Deficiency
- Homocystinuria, CBS-related
- Homocystinuria, MTHFR-related
- Hydrolethalus Syndrome
- Hypophosphatasia
- Inherited Retinal Dystrophy, RPE65-related
- Isovaleric Acidemia
- Joubert Syndrome 2
- Joubert Syndrome, AHI1-related
- Junctional Epidermolysis Bullosa, LAMA3-related
- Junctional Epidermolysis Bullosa, LAMB3-related -
- Junctional Epidermolysis Bullosa, LAMC2-related
- Krabbe Disease
- L1 Syndrome
- Leigh Syndrome, French-Canadian Type
- Lipoid Congenital Adrenal Hyperplasia
- Lysosomal Acid Lipase Deficiency
- Maple Syrup Urine Disease Type Ia
- Maple Syrup Urine Disease Type Ib -
- Maple Syrup Urine Disease Type II -
- Medium-chain Acyl-CoA Dehydrogenase Deficiency
- Megalencephalic Leukoencephalopathy with Subcortical Cysts
- Metachromatic Leukodystrophy
- Methylmalonic Acidemia, cblA Type
- Methylmalonic Acidemia, cblB Type -
- Methylmalonic Acidemia, MMUT-related -
- Methylmalonic Aciduria and Homocystinuria, cblC Type -
- Mevalonate Kinase Deficiency
- Microcephaly with Seizures and Brain Atrophy, MED17-related -
- Microphthalmia, Anophthalmia, and Coloboma, VSX2-related -
- Mitochondrial Complex I Deficiency, NDUFAF5-related
- Mitochondrial Complex I Deficiency, NDUFS4-related -
- Mitochondrial Complex I Deficiency, NDUFS6-related
- Mitochondrial Complex IV Deficiency, SCO2-related
- Mitochondrial Neurogastrointestinal Encephalopathy Disease
- MKS1-related Disorders -
- Mucolipidosis III Gamma
- Mucolipidosis IV
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type IIIA
- Mucopolysaccharidosis Type IIIB
- Mucopolysaccharidosis Type IIIC -
- Multiple Sulfatase Deficiency
- Muscular Dystrophy, LAMA2-related -
- MYO7A-related Disorders
- Myopathy, Lactic Acidosis, and Sideroblastic Anemia 1
- Myotonia Congenita -
- NAGA-related Disorders
- NEB-related Nemaline Myopathy
- Nephrotic Syndrome, NPHS1-related
- Nephrotic Syndrome, NPHS2-related
- Neuronal Ceroid Lipofuscinosis, CLN6-related
- Neuronal Ceroid Lipofuscinosis, PPT1-related
- Niemann-Pick Disease Type C1
- Niemann-Pick Disease Type C2
- Niemann-Pick Disease, SMPD1-related
- Nijmegen Breakage Syndrome
- Normophosphatemic Familial Tumoral Calcinosis
- Oculocutaneous Albinism, OCA2-related
- Oculocutaneous Albinism, TYR-related
- Opitz G/BBB Syndrome, MID1-related
- Ornithine Aminotransferase Deficiency
- Ornithine Transcarbamylase Deficiency -
- PCCA-related Propionic Acidemia
- PCCB-related Propionic Acidemia
- PCDH15-related Disorders -
- Pendred Syndrome
- Peroxisome Biogenesis Disorder Type 1
- Peroxisome Biogenesis Disorder Type 3
- Peroxisome Biogenesis Disorder Type 4 -
- Peroxisome Biogenesis Disorder Type 5
- Peroxisome Biogenesis Disorder Type 6 -
- Phenylalanine Hydroxylase Deficiency
- PLP1-related Disorders
- POLG-related Disorders
- POMGNT-related Disorders
- Pompe Disease
- Pontocerebellar Hypoplasia, RARS2-related -
- Pontocerebellar Hypoplasia, SEPSECS-related
- Pontocerebellar Hypoplasia, VPS53-related -
- Pontocerebellar Hypoplasia, VRK1-related
- Primary Carnitine Deficiency
- Primary Ciliary Dyskinesia, DNAH5-related
- Primary Ciliary Dyskinesia, DNAI1-related -
- Primary Ciliary Dyskinesia, DNAI2-related -
- Primary Hyperoxaluria Type 1 -
- Primary Hyperoxaluria Type 2
- Primary Hyperoxaluria Type 3
- Primary Microcephaly, MCPH1-related
- Primary Trimethylaminuria
- Pseudocholinesterase Deficiency
- Pycnodysostosis
- Pyruvate Carboxylase Deficiency
- RAPSN-related Disorders -
- Refsum Disease, PHYH-related
- Retinitis Pigmentosa, CERKL-related
- Retinitis Pigmentosa, DHDDS-related
- Retinitis Pigmentosa, EYS-related
- Retinitis Pigmentosa, FAM161A-related -
- Rhizomelic Chondrodysplasia Punctata Type 1
- RTEL1-related Disorders -
- Sandhoff Disease
- Serine Deficiency Disorder, PHGDH-related -
- Severe Combined Immunodeficiency, RAG2-related
- Short-chain Acyl-CoA Dehydrogenase Deficiency
- Sjogren-Larsson Syndrome
- SLC26A2-related Disorders
- Smith-Lemli-Opitz Syndrome
- Spastic Paraplegia Type 15
- Spastic Paraplegia, TECPR2-related
- Spinal Muscular Atrophy
- Spinocerebellar Ataxia, ANO10-related -
- Spondylothoracic Dysostosis
- Surfactant Deficiency, ABCA3-related -
- TGM1-related Autosomal Recessive Congenital Ichthyosis
- TPP1-related Neuronal Ceroid Lipofuscinosis
- Tyrosine Hydroxylase Deficiency
- Tyrosinemia Type I
- Tyrosinemia Type II
- USH1C-related Disorders
- USH2A-related Disorders
- Usher Syndrome Type 3
- Very-long-chain Acyl-CoA Dehydrogenase Deficiency
- Vitamin D–dependent Rickets, CYP27B1-related
- VPS13A Disease -
- Wilson Disease
- X-linked Adrenal Hypoplasia Congenita
- X-linked Adrenoleukodystrophy -
- X-linked Alport Syndrome
- X-linked Choroideremia
- X-linked Juvenile Retinoschisis
- X-linked Myotubular Myopathy
- X-linked Retinal Dystrophy, RPGR-related
- X-linked Severe Combined Immunodeficiency
- Xeroderma Pigmentosum Group A -
- Xeroderma Pigmentosum Group C
Our commitment to comprehensive sperm donor screening and testing reflects our dedication to ethical practices, scientific rigor, and patient trust.

