Hereditary conditions *

How can tellmeGen help me with a test for hereditary conditions?

Hereditary conditions may be caused by the presence of mutations or changes in the DNA sequence of a single gene. As these are specific genetic alterations, their presence or absence could be assessed by an appropriate genetic test.

Regardless of the sex chromosomes (X and Y), these conditions are classified into two groups:

Condition with autosomal dominant inheritance, only one mutated gene is needed to develop it. A diseased parent has a 50% chance of transmitting the mutation to their children.

Condition with autosomal recessive inheritance, the two genes with the mutation are missing. For children to have it, both parents must pass on the pathogenic gene. A person with a single mutated variant is called a "carrier" and can pass it on to his or her children, but would not have the condition.

If the condition is associated with genes located on the sex chromosomes, the classification and form of inheritance are different. For example, a sick father (XY) will always have sick sons (XY) and healthy daughters (XX).

With the study of hereditary diseases by tellmeGen, you will have the opportunity to make decisions or take actions alongside your trusted healthcare professional.

Achromatopsia A U

Acute intermittent porphyria (HMBS gene) A U

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

Alpha-1 Antitrypsin Deficiency A U

Alpha-mannosidosis A U

Amyloidosis, Finnish-type (GSN gene) U

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

Autosomal Dominant Limb-Girdle Muscular Dystrophy U

Autosomal Dominant Multiple Epiphyseal Dysplasia U

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

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

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

Cerebrotendinous Xanthomatosis U

Classical homocystinuria due to CBS deficiency A U

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 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

Ehlers-Danlos Syndrome (EDS) A U

Fabry Disease U

Familial adenomatous polyposis 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 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

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

Hamartoma tumor syndrome (PTEN gene) A U

Hemophilia A A U

Hemophilia B U

Hereditary Cancer (PALB2 gene) U

Hereditary Coproporphyria (CPOX gene) U

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

Homocystinuria due to MTHFR deficiency A U

Hypokalemic Periodic Paralysis A U

Hypophosphatasia A U

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

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

Lynch syndrome A U

Malignant Hyperthermia A U

Maple syrup urine disease type 1B A U

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

Metachromatic leukodystrophy A U

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

Mucolipidosis II and III alpha/beta A U

Mucolipidosis III Gamma (GNPTG gene) U

Mucolipidosis type IV (MCOLN1 gene) A U

Multiple endocrine neoplasia 2B A U

Multiple Endocrine Neoplasia Type 1 U

Multiple Endocrine Neoplasia Type 4 U

Neurofibromatosis Type 2 U

Neurofibromatosis type I 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

Neuronal Ceroid-Lipofuscinoses type 1 (associated to PPT1) A U

Niemann-Pick disease type A and B A U

Niemann-Pick Disease Type C U

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

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

Rhizomelic Chondrodysplasia Punctata Type 1 A U

Rhizomelic Chondrodysplasia Punctata Type 2 U

Rhizomelic Chondrodysplasia Punctata Type 3 U

Salla Disease A U

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

Sjögren-Larsson syndrome A U

Spastic Paraplegia (ATL1 gene) U

Spastic Paraplegia (SPAST gene) U

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

Systemic Amyloidosis (FGA gene) U

Tay-Sachs disease A U

Transthyretin amyloidosis (TTR gene) A U

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

Wilms Tumor 1 (WT1 gene) U

Wilson disease A U

X-linked Adrenoleukodystrophy U

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

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Which kits include information on hereditary conditions?

These reports are exclusively included in the Advanced DNA kits.

With this service you will also have access to your DNA test results related to hereditary conditions, pharmacological compatibility, personal traits, wellness data, an ancestry service and the possibility to access the DNA Connect service.

What are the main hereditary conditions?

Not all hereditary genetic diseases occur with the same frequency. Several of them are characteristic of specific populations and regions. It is also important to know the family's clinical history to check for pathologies; in those cases, the most advisable action is to undergo a genetic test for hereditary diseases present in relatives.

In general, among the most frequent would be thalassemia, cystic fibrosis, Tay-Sachs disease, or sickle cell anemia.

Difference between hereditary and congenital conditions

Hereditary conditions are those that are transmitted from parents to children. That is why it is advisable, knowing the family medical history, to perform a genetic test on relatives.

On the other hand, congenital diseases are those that are present in the individual from birth.

However, they are not synonymous. A hereditary disease that does not cause alterations from birth would not be considered congenital. Similarly, there are congenital diseases that have not been transmitted by their parents and are due to other problems during the embryo's development.

I would like to know more about the hereditary condition report:

Here you can see a demo example of the results of the section. When you access, you will see the list of conditions that we analyze. If you wish to see the technical report of each one, simply click on its name.

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