See If You Qualify To Join Cryobank OC's Sperm Donor Program

Genetic Testing — Natera Horizon Carrier Screening

At Cryobank OC, the health and well-being of our donors and patients are our top priority. To provide the most comprehensive genetic insights, we utilize Natera Horizon Carrier Screening for all our sperm donors and individuals considering starting a family. Natera's cutting-edge screening technology offers comprehensive testing for inherited conditions and prenatal assessments for expectant mothers, providing the essential information to make informed decisions for your family's future.

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Why Should I Receive Genetic Testing?

Inherited conditions are more common than one might think, affecting as many as 1 in 300 pregnancies. However, a family's medical history may not always provide the complete picture. Individuals can carry inherited conditions without even realizing it. Additionally, these conditions do not discriminate and can affect children of any ethnicity or race. Most individuals receive reassuring results and the peace that comes with them. Cryobank OC can help you understand the result and determine the most appropriate actions if something does appear.

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mom, dad, and daughter smiling in an outdoor setting.

soon-to-be big sister holding mom's pregnant belly.

Genetic Screening Before and During Pregnancy

Genetic screenings conducted before and during pregnancy offer valuable insights into the likelihood of your baby inheriting a severe health or chromosomal condition. With this knowledge, you can make informed plans for care and support throughout the pregnancy, ensuring the best possible outcome for your child's health. While most couples do not share the same genetic condition, it is crucial to determine if you and your partner belong to the minority at a higher risk. This knowledge can help you prepare for your pregnancy and delivery.

Genetic Testing

$500

Natera Horizon Carrier Screening

Tests For 560 Conditions

Early Detection and Prevention

Gain Family Health Insights

Do You Still Have Questions?

If you have any further questions about Genetic Testing, please don't hesitate to reach out to our office! Our welcoming staff is ready to assist and address any inquiries you may have.

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Natera's Horizon Carrier Screening Tests For 560 Conditions

All Cryobank OC sperm donors will undergo genetic carrier screening conducted by Natera Laboratories, which is approved by the US Food and Drug Administration (FDA), CAP-accredited, ISO 13485-certified, and CLIA-certified. The screening will identify potential genetic diseases that donors may carry, including:

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
HPD - Tyrosinemia type III
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

I - L

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

N - O

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)

Q - R

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

U - Z

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

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