WHY TEST?

Better understand an existing condition

Hereditary conditions we test for:

BROWSE CONDITIONS

If you see your condition listed in the categories below, ask your doctor about genetic testing. You can also download the guide Knowing your family medical history and a letter to share with your doctor to initiate a conversation about genetic testing. If you would like additional help, contact Client Services at 415-374-7782.

  • Hereditary cancer

  • Heart conditions

  • Neurological disorders


    • Movement disorders
      • Dystonia
      • Parkinson's disease & parkinsonism

    • Muscular dystrophy

    • Myopathy
      • Congenital myopathy
      • Central core disease
      • Centronuclear myopathy
      • Congenital fiber-type disproportion
      • Distal myopathy
      • Multiminicore disease
      • Myofibrillar myopathy
      • Nemaline myopathy
      • Type VI collagenopathy

    • Neurodegenerative disorders
      • Hereditary prion disease
      • Hereditary Alzheimer's disease
      • Amyotrophic lateral sclerosis
      • Frontotemporal dementia
      • Parkinson's disease & parkinsonism



    • Congenital myasthenic syndrome

    • Malignant hyperthermia susceptibility

    • Spinal muscular atrophy

    • Charcot-Marie-Tooth disease

    • Hereditary spastic paraplegia
  • Childhood & rare disorders


    • Ciliopathies
      • Ciliopathies
      • Primary ciliary dyskinesia
      • Bardet-Biedl syndrome
      • Joubert syndrome and related disorders
      • Nephronophthisis
      • Oral-facial-digital syndrome type 1 (OFD1)
      • Senior-Loken syndrome

    • Epilepsy
      • Epilepsy
      • Early infantile epileptic encephalopathy

    • Skin disorders
      • Ectodermal dysplasia
      • TP63-related disorders

    • RASopathies

    • Congenital heart disease

    • ATRX syndrome

    • Alagille syndrome

    • Androgen insensitivity

    • Aniridia

    • Antley-Bixler syndrome

    • Axenfield-Rieger syndrome

    • Baraitser-Winter syndrome

    • Batten disease

    • Brachiootorenal spectrum disorders

    • CHARGE syndrome

    • CHOPS syndrome

    • Campomelic dysplasia

    • Cardio-facio-cutaneous syndrome

    • Carpenter syndrome

    • Cerebral cavernous malformations

    • Chondrodysplasia punctata

    • Choroideremia

    • Chronic pancreatitis

    • Coffin-Lowry syndrome

    • Cohen syndrome

    • Congenital cataracts

    • Cornelia de Lange syndrome (CdLs)

    • Costello syndrome

    • Craniosynostosis

    • Cystic fibrosis

    • Disorders of sex development

    • Duane-radial ray syndrome

    • Early-onset glaucoma

    • FGFR3-related disorders

    • Glass syndrome

    • Hereditary multiple osteochondromas

    • Holoprosencephaly

    • Holt-Oram syndrome

    • Isolated gonadotropin-releasing hormone deficiency (IGD)

    • KAT6B-related disorders

    • KBG syndrome

    • Kabuki syndrome

    • Leber congenital amaurosis (LCA)

    • Legius syndrome

    • Lesch-Nyhan syndrome

    • MED12-related disorders

    • Microphalmia/Anophthalmia

    • NSDHL-related disorders

    • Neurodegeneration with brain iron accumulation (NBIA)

    • Neurofibromatosis type 1 (NF1)

    • Noonan syndrome

    • Oculo-facio-cardio-dental (OFCD) syndrome

    • Osteogenesis imperfecta

    • PTEN-related disorders

    • Pallister-Hall syndrome

    • Perlman syndrome

    • Polycystic kidney disease

    • Proteus syndrome

    • Renpenning syndrome

    • Retinoblastoma

    • Rett and Angelman syndromes

    • Rubinstein-Taybi syndrome

    • Simpson-Golabi-Behmel syndrome

    • Smith-Lemli-Opitz syndrome

    • Sotos syndrome

    • Thrombocytopenia-absent radius (TAR) syndrome

    • Townes-Brocks syndrome

    • Treacher-Collins syndrome

    • Trichorhinophalangeal syndrome (TRPS)

    • Tuberous sclerosis complex (TSC)

    • Ulnar-Mammary syndrome

    • WAGR syndrome

    • Weaver syndrome

    • van der Woude syndrome

    • von Hippel-Lindau syndrome
  • Newborn conditions & metabolic disorders


    • Newborn screening
      • Newborn screening for metabolic disorders

    • Disorders of amino acid metabolism
      • Glycine encephalopathy
      • Homocystinuria
      • Hyperphenylalanemia
      • Hyperprolinemia
      • Maple syrup urine disease

    • Disorders of carbohydrate metabolism
      • Galactosemia
      • Glucose-6-phosphate dehydrogenase deficiency
      • Glucose transporter, type 1

    • Congenital disorders of glycosylation (CDG)
      • Congenital disorders of glycosylation

    • Disorders of fat metabolism
      • Fatty acid oxidation defects
      • Multiple acyl-coA dehydrogenase deficiency

    • Lysosomal storage diseases
      • Fabry disease
      • Krabbe disease
      • Metachromatic leukodystrophy
      • Mucopolysaccharidosis Type II
      • Niemann-Pick type C
      • Pompe disease
      • Sandhoff disease
      • Tay-Sachs disease

    • Metal transport disorders
      • ATP7A-related disorders
      • Wilson disease

    • Organic acidemias
      • Organic acidemias
      • 3-Methylcrotonyl-CoA carboxylase deficiency
      • Barth syndrome
      • Biotinidase deficiency
      • Canavan disease
      • Glutaric acidemia type 1
      • Methylmalonic acidemia
      • Multiple acyl-coA dehydrogenase deficiency
      • Multiple carboxylase deficiency
      • Propionic acidemia

    • Urea cycle disorders
      • Urea cycle disorders
  • Blood disorders


    • Bone marrow failure
      • Bone marrow failure
      • Congenital amegakaryocytic thrombocytopenia
      • Diamond-Blackfan anemia
      • Dyskeratosis congenita
      • ELANE-related neutropenia
      • Familial platelet disorder with propensity to myeloid malignancy
      • Fanconi anemia
      • GATA1-related cytopenia
      • GATA2 deficiency
      • WAS-related disorders

    • Thrombophilia
      • Antithrombin III deficiency
      • Protein C deficiency
      • Protein S deficiency
      • Thrombophilia

    • Hemochromatosis

A genetic diagnosis offers peace of mind and can point to better treatment options

  • Genetic testing can bring certainty to a medical diagnosis, which can confirm your treatment plan or, in some cases, help identify new or better treatments
  • Knowing if your condition is genetic can help loved ones know if they might also be at risk
  • Not all conditions can be inherited; check above to see if genetic testing could be appropriate for your condition

Consult with a genetics expert

  • Invitae's Genetics Provider Network (GPN) can help you locate genetics professionals in your area
  • Genetics professionals can help assess if genetic testing is right for you and, if so, can order your test
  • Register¬†to search the GPN
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Genetic conditions shouldn't be a mystery

Hear patients describe how genetic testing made a difference for them

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