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Family Planning
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.
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
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.
Plan an actionable roadmap for a healthy familyFormulate an effective prevention plan with your doctor that minimises the risks of specific diseases.
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
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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