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Protect your family, right from the start
Uncover potential hereditary risks as a couple so you can give your children their healthiest baby steps in life.
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Check your carrier status for 160+ conditionsLearn which hereditary diseases may pass on to your children to ensure peace of mind from start to finish
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Learn the life-changing details of the diseases you’re at risk forA detailed breakdown of each condition gives you the confidence to make key health decisions for your family.
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Plan an actionable roadmap for a healthy familyFormulate an effective prevention plan with your doctor that minimises the risks of specific diseases.
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160+Hereditary Conditions
Blood
- Beta Thalassemia due to HBB mutation
- Factor XI Deficiency due to F11 mutation
- Fanconi Anemia due to FANCA mutation
- Fanconi Anemia due to FANCC mutation
- Fanconi Anemia due to FANCG mutation
- Glucose-6-phosphate Dehydrogenase Deficiency due to G6PD mutation
- Sickle Cell Disease due to HBB mutation
- Hemophilia B due to F9 variant
Cardiovascular System
- Dilated Cardiomyopathy due to FKTN mutation
Developmental Disorders
- Bardet-Biedl Syndrome due to BBS1 mutation
- Bardet-Biedl Syndrome due to BBS10 mutation
- Bloom Syndrome due to BLM mutation
- Cohen Syndrome due to VPS13B mutation
- GRACILE Syndrome due to BCS1L mutation
- Joubert Syndrome due to TMEM216 mutation
- Nijmegen Breakage Syndrome due to NBN mutation
- Pycnodysostosis due to CTSK mutation
- Rhizomelic Chondrodysplasia Punctata due to PEX7 mutation
- Zellweger Syndrome Spectrum due to PEX1 mutation
Eye & Ear
- Deafness due to PCDH15 mutation
- Nonsyndromic Hearing Loss and Deafness due to GJB3 mutation
- Pendred Syndrome due to SLC26A4 mutation
- Nonsyndromic Hearing Loss and Deafness due to MT-RNR1 variant
- Nonsyndromic Hearing Loss and Deafness due to GJB2 mutation
- Usher Syndrome due to ADGRV1 (GPR98) mutation
- Usher Syndrome due to CDH23 mutation
- Usher Syndrome due to CIB2 mutation
- Usher Syndrome due to CLRN1 mutation
- Usher Syndrome due to MYO7A mutation
- Usher Syndrome due to PCDH15 mutation
- Usher Syndrome due to PDZD7 mutation
- Usher Syndrome due to USH1C mutation
- Usher Syndrome due to USH1G mutation
- Usher Syndrome due to USH2A mutation
- Usher Syndrome due to WHRN (DFNB31) mutation
- Achromatopsia due to ATF6 mutation
- Achromatopsia due to CNGA3 mutation
- Achromatopsia due to CNGB3 mutation
- Achromatopsia due to GNAT2 mutation
- Achromatopsia due to PDE6C mutation
- Achromatopsia due to PDE6H mutation
- Choroideremia due to CHM mutation
- Costeff Optic Atrophy Syndrome due to OPA3 mutation
- X-linked Juvenile Retinoschisis due to RS1 mutation
Hormone Disorder
- Combined Pituitary Hormone Deficiency due to PROP1 mutation
- Congenital Adrenal Hyperplasia due to CYP17A1 mutation
- Hyperinsulinism due to ABCC8 mutation
- Hyperinsulinism due to HADH mutation
- Hyperinsulinism due to KCNJ11 mutation
- Polyglandular Autoimmune Syndrome due to AIRE mutation
Immune System
- Familial Mediterranean Fever due to MEFV mutation
Metabolic System
- Acute Fatty Liver due to HADHA mutation
- Alkaptonuria due to HGD mutation
- Alkaptonuria due to HGD mutation
- Alpha-Mannosidosis due to MAN2B1 mutation
- Aspartylglycosaminuria due to AGA mutation
- Biotinidase Deficiency due to BTD mutation
- Carnitine Palmitoyltransferase Deficiency due to CPT1A mutation
- Carnitine Palmitoyltransferase Deficiency due to CPT2 mutation
- Citrullinemia due to ASS1 mutation
- Citrullinemia due to SLC25A13 mutation
- Congenital Disorder of Glycosylation due to MPI mutation
- Congenital Disorder of Glycosylation due to PMM2 mutation
- Cystinosis due to CTNS mutation
- D-bifunctional Protein Deficiency due to HSD17B4 mutation
- Dihydrolipoamide Dehydrogenase Deficiency due to DLD mutation
- Dihydropyrimidine Dehydrogenase Deficiency due to DPYD mutation
- Galactosemia due to GALT mutation
- Gaucher Disease due to GBA mutation
- Glutaric Acidemia due to GCDH mutation
- Glycogen Storage Disease due to AGL mutation
- Glycogen Storage Disease due to G6PC mutation
- Glycogen Storage Disease due to PYGM mutation
- Glycogen Storage Disease due to SLC37A4 mutation
- Hereditary Fructose Intolerance due to ALDOB mutation
- HFE-associated Hereditary Hemochromatosis due to HFE mutation
- Homocystinuria due to CBS mutation
- Isovaleric Acidemia due to IVD mutation
- LCHAD Deficiency due to HADHA mutation
- Maple Syrup Urine Disease due to BCKDHA mutation
- Maple Syrup Urine Disease due to BCKDHB mutation
- Maple Syrup Urine Disease due to DBT mutation
- Maple Syrup Urine Disease due to DLD mutation
- Medium Chain Acyl-CoA Dehydrogenase Deficiency due to ACADM mutation
- MTHFR Deficiency due to MTHFR mutation
- Mucolipidosis due to MCOLN1 mutation
- Mucopolysaccharidosis due to IDUA mutation
- Niemann-Pick Disease due to NPC1 mutation
- Niemann-Pick Disease due to SMPD1 mutation
- Phenylketonuria due to GCH1 mutation
- Phenylketonuria due to GCHFR mutation
- Phenylketonuria due to PAH mutation
- Phenylketonuria due to PCBD1 mutation
- Phenylketonuria due to PTS mutation
- Phenylketonuria due to QDPR mutation
- Pompe Disease due to GAA mutation
- Primary Carnitine Deficiency due to SLC22A5 mutation
- Primary Hyperoxaluria due to AGXT mutation
- Primary Hyperoxaluria due to GRHPR mutation
- Primary Hyperoxaluria due to HOGA1 mutation
- Pseudocholinesterase Deficiency due to BCHE mutation
- Short Chain Acyl-CoA Dehydrogenase Deficiency due to ACADS mutation
- Trifunctional Protein Deficiency due to HADHA mutation
- Tyrosinemia due to FAH mutation
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency due to ACADVL mutation
- Wilson Disease due to ATP7B mutation
- Methylmalonic Acidemia due to MMAA variant
- Methylmalonic Acidemia due to MMAB variant
- Methylmalonic Acidemia due to MMUT variant
Multiple Organ Systems
- Cystic Fibrosis due to CFTR mutation
Musculoskeletal System
- Achondrogenesis due to SLC26A2 mutation
- Alpha-Sarcoglycanopathy due to SGCA mutation
- Autosomal Recessive Hypophosphatasia due to ALPL mutation
- Autosomal Recessive Muscular Dystrophy due to CAPN3 mutation
- Autosomal Recessive Muscular Dystrophy due to CAV3 mutation
- Autosomal Recessive Muscular Dystrophy due to DYSF mutation
- Autosomal Recessive Muscular Dystrophy due to FKTN mutation
- Beta-sarcoglycanopathy (Limb-girdle muscular dystrophy) due to SGCB mutation
- Cartilage-hair Hypoplasia due to RMRP mutation
- Diastrophic Dysplasia due to SLC26A2 mutation
- Inclusion Body Myopathy due to GNE mutation
- Nemaline Myopathy due to KLHL40 mutation
- Nemaline Myopathy due to NEB mutation
- Recessive Multiple Epiphyseal Dysplasia due to SLC26A2 mutation
- Sulfate Transporter-related Osteochondrodysplasia due to SLC26A2 mutation
Nervous System
- Ataxia with Vitamin E Deficiency due to TTPA mutation
- Ataxia-Telangiectasia due to ATM mutation
- Canavan Disease due to ASPA mutation
- Familial Dysautonomia due to ELP1 (IKBKAP) mutation
- Hexosaminidase A Deficiency (Including Tay-Sachs Disease) due to HEXA mutation
- Megalencephalic Leukoencephalopathy with Subcortical Cysts due to MLC1 mutation
- Metachromatic Leukodystrophy due to ARSA mutation
- Northern Epilepsy due to CLN8 mutation
- Sjögren-Larsson Syndrome due to ALDH3A2 mutation
- Smith-Lemli-Opitz Syndrome due to DHCR7 mutation
Neurometabolic Disorder
- Krabbe Disease due to GALC mutation
- Neuronal Ceroid Lipofuscinosis due to CLN3 mutation
- Neuronal Ceroid Lipofuscinosis due to CLN5 mutation
- Neuronal Ceroid Lipofuscinosis due to PPT1 mutation
- Neuronal Ceroid Lipofuscinosis due to TPP1 mutation
- Salla Disease due to SLC17A5 mutation
Neuromuscular System
- Andermann Syndrome due to SLC12A6 mutation
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) due to SACS mutation
- Muscle-Eye-Brain Disease due to POMGNT1 mutation
- Muscular dystrophy-dystroglycanopathy due to FKTN mutation
- Segawa Syndrome due to TH mutation
Prenatal
- HELLP Syndrome due to HADHA mutation
Skin
- Herlitz Junctional Epidermolysis Bullosa due to LAMA3 mutation
- Herlitz Junctional Epidermolysis Bullosa due to LAMB3 mutation
- Herlitz Junctional Epidermolysis Bullosa due to LAMC2 mutation
- Oculocutaneous Albinism due to TYR variant
Urinary System
- Autosomal Recessive Polycystic Kidney Disease due to PKHD1 mutation
- Steroid-resistant Nephrotic Syndrome due to COQ8B (ADCK4) mutation
- Steroid-resistant Nephrotic Syndrome due to CUBN mutation
- Steroid-resistant Nephrotic Syndrome due to LAMB2 mutation
- Steroid-resistant Nephrotic Syndrome due to LMX1B mutation
- Steroid-resistant Nephrotic Syndrome due to NPHS1 mutation
- Steroid-resistant Nephrotic Syndrome due to NPHS2 mutation
- Steroid-resistant Nephrotic Syndrome due to PLCE1 mutation
- Steroid-resistant Nephrotic Syndrome due to SMARCAL1 mutation
- Steroid-resistant Nephrotic Syndrome due to WT1 mutation
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Nonsyndromic Hearing Loss and Deafness
75-80 percent of cases are inherited from carrier parents who don’t exhibit nonsyndromic hearing loss.
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