Hereditary conditions *

How can tellmeGen help you with a hereditary conditions test?

Heritable conditions, also called monogenic conditions, are due to variants in a single gene and can be passed down from parents to children. Many people unknowingly have one of these variants because it does not cause them symptoms. A genetic test allows you to know if you have variants associated with these conditions and if you are a carrier of one that you could pass on to your children.

When the gene is on a non-sex chromosome (autosome), there are two main forms of inheritance:

Autosomal dominant inheritance. Only one altered copy of the gene is sufficient for the condition to manifest. A person with one of these variants has a 50% chance of passing it on to each child.

Autosomal recessive inheritance. For the condition to manifest, both copies of the altered gene are needed, one inherited from each parent. Someone who has only one altered copy is a carrier: they typically do not develop the condition but can pass on the variant. If both members of a couple are carriers for the same gene, each child has a 25% chance of inheriting both copies.

When the gene is on the X chromosome, inheritance is different. Men only have one X chromosome, so a recessive variant on that chromosome can manifest in them, while women are usually carriers. For example, a father with an X-linked recessive condition does not pass it on to his sons, but all his daughters will be carriers. tellmeGen analyzes up to 282 hereditary conditions, from metabolic to cardiac, ocular, or hereditary cancers. With this information, together with your healthcare professional, you can plan a family with more knowledge and assess whether any follow-up is advisable.

It is important to know what each result means. We analyze specific variants, known for their association with each condition, but not all possible variants of each gene. Therefore, a result without variants does not rule out having the condition or being a carrier of other variants. And a result with a variant must be confirmed with a clinical test before making any decisions, ideally with genetic counseling, which you can request from our team. These reports are predictive and informative: they are not a diagnosis. If any of them concern you, such as those for hereditary cancer, you can choose not to see it and consult it whenever you wish.

Achromatopsia A U

Acute intermittent porphyria (HMBS gene) A U

Acyl-CoA dehydrogenase 9 deficiency (ACAD9 deficiency) U NEW

Agenesis of the Corpus Callosum with Peripheral Neuropathy (ACCPN) A U

Alagille syndrome U NEW

Alkaptonuria U NEW

Alpha-1 Antitrypsin Deficiency A U

Alpha-mannosidosis A U

Alström syndrome U NEW

Amyloidosis, Finnish-type (GSN gene) U

Androgen resistance syndrome U NEW

Argininosuccinate lyase deficiency U NEW

ARSACS (Autosomal recessive spastic ataxia of Charlevoix-Saguenay) A U

Aspartylglucosaminuria U NEW

Autosomal dominant and autosomal recessive Alport syndrome U NEW

Autosomal Dominant Limb-Girdle Muscular Dystrophy U

Autosomal Dominant Multiple Epiphyseal Dysplasia U

Autosomal dominant optic atrophy (OPA1 gene) U NEW

Autosomal Dominant Polycystic Kidney Disease U

Autosomal Dominant Retinitis Pigmentosa U

Autosomal recessive limb-girdle muscular dystrophy A U

Autosomal recessive polycystic kidney disease A U

Autosomal recessive retinitis pigmentosa A U

BAP1 tumor predisposition syndrome U NEW

Barth syndrome U NEW

Bartter syndrome type 3 U NEW

Bartter syndrome type 4A U NEW

Beta Thalassemia A U

Biotinidase deficiency A U

Birt-Hogg-Dube syndrome A U

Bloom syndrome A U

Brugada Syndrome A U

Canavan Disease A U

Carbamoyl phosphate synthetase I deficiency U NEW

Carnitine palmitoyltransferase II deficiency U NEW

Catecholaminergic Polymorphic Ventricular Tachycardia (CASQ2 gene) U

Catecholaminergic Polymorphic Ventricular Tachycardia (RYR2 gene) U

Catecholaminergic Polymorphic Ventricular Tachycardia (TRDN gene) U

cblA Type Methylmalonic aciduria A U

cblB Type Methylmalonic aciduria A U

Cerebral creatine deficiency syndrome 1 (SLC6A8) U NEW

Cerebral creatine deficiency syndrome 2 (GAMT) U NEW

Cerebral creatine deficiency syndrome 3 (GATM) U NEW

Cerebrotendinous Xanthomatosis U

Chédiak–Higashi syndrome U NEW

Citrullinemia U NEW

Classical homocystinuria due to CBS deficiency A U

Cockayne syndrome U NEW

Coffin–Lowry syndrome U NEW

Congenital adrenal hyperplasia (CAH) U NEW

Congenital disorder of glycosylation type 1a (PMM2 gene) A U

Congenital disorder of glycosylation type 1c (ALG6 gene) U

Congenital disorder of glycosylation type 1k (ALG1 gene) U

Congenital muscular alpha-dystroglycanopathy and Walker-Warburg syndrome A U

Congenital Myasthenic Syndrome (CHRNB1 gene) U

Congenital myasthenic syndrome (RAPSN gene) A U

Congenital nephrotic syndrome type 1 U NEW

Congenital nephrotic syndrome type 2 U NEW

Congenital stationary night blindness A U

Congenital Stationary Night Blindness (Oguchi Disease) U

Cystic fibrosis A U

Cystinosis A U

D-Bifunctional Protein Deficiency A U

Diastrophic dysplasia A U

Dihydrolipoamide Dehydrogenase Deficiency A U

Dilated cardiomyopathy 1A (LMNA gene) A U

Dilated Cardiomyopathy 1D (TNNT2 gene) U

Dilated Cardiomyopathy 1DD (RBM20 gene) U

Dilated Cardiomyopathy 1E (SCN5A gene) U

Dilated Cardiomyopathy 1G (TTN gene) U

Dilated Cardiomyopathy 1HH (BAG3 gene) U

Dilated Cardiomyopathy 1I (DES gene) U

Dilated Cardiomyopathy 1P (PLN gene) U

Dilated Cardiomyopathy 1S (MYH7 gene) U

Dilated Cardiomyopathy 1Z (TNNC1 gene) U

Dubin-Johnson syndrome A U

Duchenne and Becker muscular dystrophies U NEW

Ehlers-Danlos Syndrome (EDS) A U

Fabry Disease U

Familial adenomatous polyposis (APC and MUTYH genes) A U

Familial advanced sleep phase syndrome (FASPS) A U

Familial Arrhythmogenic Right Ventricular Cardiomyopathy U

Familial breast cancer (BRCA1 and BRCA2 genes) A U

Familial dysautonomia (Riley-Day syndrome) A U

Familial Hypercholesterolemia A U

Familial Hypertrophic Cardiomyopathy (HCM) A U

Familial intrahepatic cholestasis (ABCB11 gene) U NEW

Familial intrahepatic cholestasis (ABCB4 gene) U NEW

Familial intrahepatic cholestasis (ATP8B1 gene) U NEW

Familial Mediterranean fever A U

Familial Porphyria Cutanea Tarda (UROD gene) U

Familial Thoracic Aortic Aneurysm and Dissection (ACTA2 gene) U

Familial Thoracic Aortic Aneurysm and Dissection (MYH11 gene) U

Familiar hyperinsulinism (ABCC8-related) A U

Fanconi Anemia (FANCA gene) U

Fanconi anemia (FANCC gene) A U

Fanconi Anemia (FANCE gene) U

Fanconi Anemia (FANCG gene) U

Fructose-1,6-bisphosphatase deficiency U NEW

Fucosidosis U NEW

Galactosemia type 1 (GALT gene) U NEW

Galactosemia type 2 (GALK1 gene) U NEW

Galactosemia type 3 (GALE gene) U NEW

Galactosialidosis U NEW

Gaucher disease A U

GCK-related Diabetes (MODY 2) U

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) A U

Glutaric Acidemia type 1 A U

Glutaric Acidemia type 2 A U

Glycogen storage disease type 1A (Von Gierke Disease) A U

Glycogen storage disease type 1B A U

Glycogen storage disease type 3 A U

Glycogen Storage Disease Type IV U

Glycogen Storage Disease Type VI U

Glycogenosis type 2 or Pompe disease A U

Glycogenosis type 5 or McArdle's disease A U

GRACILE syndrome A U

Griscelli syndrome type 2 U NEW

Hamartoma tumor syndrome (PTEN gene) A U

Hemophilia A A U

Hemophilia B U

Hereditary cancer (ATM gene) U NEW

Hereditary cancer (BARD1 gene) U NEW

Hereditary cancer (BRIP1 gene) U NEW

Hereditary cancer (CHEK2 gene) U NEW

Hereditary cancer (CTNNA1 gene) U NEW

Hereditary Cancer (PALB2 gene) U

Hereditary cancer (RAD51C gene) U NEW

Hereditary cancer (RAD51D gene) U NEW

Hereditary Coproporphyria (CPOX gene) U

Hereditary diffuse gastric cancer (CDH1 gene) U NEW

Hereditary fructose intolerance A U

Hereditary hemochromatosis type 1 (HFE gene) A U

Hereditary Hemochromatosis Type 2A (HJV gene) U

Hereditary Hemochromatosis Type 2B (HAMP gene) U

Hereditary Hemochromatosis Type 3 (TFR2 gene) U

Hereditary Hemochromatosis Type 4 (SLC40A1 gene) U

Hereditary Hemorrhagic Telangiectasia U

Hereditary Paraganglioma-Pheochromocytoma Syndrome U

HNF1A-related Diabetes (MODY 3) U

HNF1B-related Diabetes (MODY 5) U

HNF4A-related Diabetes (MODY 1) U

Holt-Oram Syndrome U NEW

Homocystinuria due to MTHFR deficiency A U

Hypokalemic Periodic Paralysis A U

Hypophosphatasia A U

Hypoxanthine-guanine phosphoribosyltransferase deficiency U NEW

Isolated sulfite oxidase deficiency U NEW

Junctional Epidermolysis Bullosa A U

Juvenile Polyposis Syndrome (BMPR1A gene) U

Juvenile Polyposis Syndrome (SMAD4 gene) U

Leigh Syndrome, French-Canadian type (LSFC) A U

Leukoencephalopathy with vanishing white matter A U

Li-Fraumeni Syndrome A U

Loeys-Dietz Syndrome U NEW

Long QT Syndrome Type 3 U

Long QT Syndrome Types 1 and 2 U

Long QT Syndrome Types 14, 15, and 16 U

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency A U

Lymphoproliferative disease (SH2D1A) U NEW

Lymphoproliferative syndrome (ITK gene) U NEW

Lynch syndrome A U

Lysosomal acid lipase deficiency U NEW

Malignant Hyperthermia A U

Maple syrup urine disease type 1B A U

Marfan syndrome (FBN1 gene) U NEW

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) A U

Metachromatic leukodystrophy A U

Methionine adenosyltransferase 1-3 deficiency U NEW

Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency U NEW

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency A U

Methylmalonic Aciduria with Homocystinuria, cblC type U

Methylmalonic Aciduria with Homocystinuria, cblD type U

Methylmalonic Aciduria with Homocystinuria, cblF type U

Methylmalonic Aciduria with Homocystinuria, cblJ type U

Mitochondrial Trifunctional Protein Deficiency U

Molybdenum cofactor deficiency type A U NEW

Molybdenum cofactor deficiency type B U NEW

Mucolipidosis II and III alpha/beta A U

Mucolipidosis III Gamma (GNPTG gene) U

Mucolipidosis type IV (MCOLN1 gene) A U

Mucopolysaccharidosis type 1 U NEW

Mucopolysaccharidosis type 2 U NEW

Mucopolysaccharidosis type 3 U NEW

Mucopolysaccharidosis type 4 U NEW

Mucopolysaccharidosis type 6 U NEW

Mucopolysaccharidosis type 7 U NEW

Mucopolysaccharidosis type IX (MPS IX) U NEW

Multiple endocrine neoplasia 2 A U

Multiple Endocrine Neoplasia Type 1 U

Multiple Endocrine Neoplasia Type 4 U

Multiple sulfatase deficiency U NEW

N-acetylglutamate synthase deficiency U NEW

Neurofibromatosis 1 A U

Neurofibromatosis Type 2 U

Neuronal ceroid lipofuscinosis type 1 (PPT1 gene) A U

Neuronal Ceroid Lipofuscinosis Type 10 (CTSD gene) U

Neuronal Ceroid Lipofuscinosis Type 11 (GRN gene) U

Neuronal Ceroid Lipofuscinosis Type 13 (CTSF gene) U

Neuronal Ceroid Lipofuscinosis Type 2 (TPP1 gene) U

Neuronal ceroid lipofuscinosis type 3 (CLN3 gene) A U

Neuronal ceroid lipofuscinosis type 5 (CLN5 gene) A U

Neuronal ceroid lipofuscinosis type 6 (CLN6 gene) A U

Neuronal ceroid lipofuscinosis type 7 (MFSD8 gene) A U

Neuronal Ceroid Lipofuscinosis Type 8 (CLN8 gene) U

Niemann-Pick disease type A and B A U

Niemann-Pick Disease Type C U

Nijmegen breakage syndrome U NEW

Non-syndromic mitochondrial hearing loss A U

Nonsyndromic Hearing Loss and Deafness, DFNB1 A U

Oculocutaneous albinism (OCA2 gene) A U

Oculocutaneous albinism (SLC45A2 gene) U

Oculocutaneous albinism (TYR gene) A U

Oculocutaneous albinism (TYRP1 gene) U

Ornithine Transcarbamylase Deficiency U

Pendred syndrome A U

Peters plus syndrome A U

Peutz-Jeghers Syndrome U

Phenylketonuria A U

Polymerase Proofreading–Associated Polyposis (POLD1 and POLE genes) U

Pontocerebellar Hypoplasia Type 10 (CLP1 gene) U

Pontocerebellar Hypoplasia Type 11 (TBC1D23 gene) U

Pontocerebellar Hypoplasia Type 1A (VRK1 gene) U

Pontocerebellar Hypoplasia Type 1B (EXOSC3 gene) U

Pontocerebellar Hypoplasia Type 2B (TSEN2 gene) U

Pontocerebellar Hypoplasia Type 2D (SEPSECS gene) U

Pontocerebellar Hypoplasia Type 6 (RARS2 gene) U

Pontocerebellar Hypoplasia Type 7 (TOE1 gene) U

Pontocerebellar Hypoplasia Type 8 (CHMP1A gene) U

Pontocerebellar Hypoplasia Type 9 (AMPD2 gene) U

Pontocerebellar hypoplasia types 2A, 4, and 5 (TSEN54 gene) A U

Primary hyperoxaluria type 1 (PH1) A U

Primary hyperoxaluria type 2 (PH2) A U

Primary Hyperoxaluria Type 3 (PH3) U

Primary Pyruvate Dehydrogenase Complex Deficiency U

Pycnodysostosis U NEW

Pyridoxine-dependent epilepsy A U

Pyruvate kinase deficiency A U

Recessive Retinopathy (RPE65 gene) U

Refsum disease A U

Retinitis Pigmentosa with or without Skeletal Abnormalities U

Retinoblastoma U

Rett syndrome U NEW

Rhizomelic Chondrodysplasia Punctata Type 1 A U

Rhizomelic Chondrodysplasia Punctata Type 2 U

Rhizomelic Chondrodysplasia Punctata Type 3 U

S-adenosylhomocysteine hydrolase deficiency U NEW

Salla Disease A U

Sandhoff disease U NEW

Short chain acyl-CoA dehydrogenase deficiency (SCADD) A U

Sialidosis U NEW

Sitosterolemia U NEW

Sjögren-Larsson syndrome A U

Smith-Lemli-Opitz Syndrome U NEW

Spastic Paraplegia (ATL1 gene) U

Spastic Paraplegia (SPAST gene) U

Spastic Paraplegia with Pelizaeus-Merzbacher Disease (PLP1 gene) U

Stargardt disease U NEW

Systemic Amyloidosis (FGA gene) U

Systemic primary carnitine deficiency U NEW

Tay-Sachs disease A U

Transthyretin amyloidosis (TTR gene) A U

Trimethylaminuria U NEW

Tuberous Sclerosis U

Tyrosinemia type I A U

Tyrosinemia Type II U

Usher syndrome A U

Variegate Porphyria (PPOX gene) U

Very long chain acyl-CoA dehydrogenase deficiency (VLCADD) A U

Visceral Amyloidosis (APOA1 gene) U

Von Hippel-Lindau Syndrome U

von Willebrand disease A U

Werner syndrome U NEW

Wilms Tumor 1 (WT1 gene) U

Wilson disease A U

X-linked Adrenoleukodystrophy U

X-linked Alport syndrome U NEW

X-linked Congenital Stationary Night Blindness U

X-linked Dominant Rhizomelic Chondrodysplasia Punctata U

X-linked Recessive Rhizomelic Chondrodysplasia Punctata U

X-linked Retinitis Pigmentosa U

Zellweger syndrome A U

Advanced

Ultra

What genetic analyses are included in hereditary condition reports?

Advanced includes 102 hereditary conditions. Ultra includes the 282: those of Advanced and 180 more.

If you want to know your carrier status with the greatest breadth, choose Ultra. With either, you'll also have access to your genetic vulnerability results for health conditions, pharmacological compatibility, personal traits, wellness and ancestry, and to the DNA Connect service.

What are the most frequent hereditary conditions?

Not all hereditary conditions are equally common, and many are more prevalent in certain populations or regions. Among the best known are cystic fibrosis, beta-thalassemia, hereditary hemochromatosis, familial Mediterranean fever, and, in some populations, Tay-Sachs disease.

If there is a history of a hereditary condition in your family, discuss it with your healthcare professional or a genetic counseling specialist: they will tell you which study is most appropriate.

What is the difference between an inherited condition and a congenital condition?

An inherited condition is one that is passed down from parents to children through genes.

A congenital condition is one that is present from birth.

They are not synonyms: an hereditary condition may not show symptoms until adulthood, and therefore not be congenital; and there are congenital conditions that are not inherited, but are due to other factors during embryonic development.

What is the hereditary conditions report like?

Here you can see an example of the results from this section. You will see the list of conditions we analyze; click on each one to see its technical report.

View example