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GTR Home > Tests > VIPAS39 - NGS including CNV analysis

Indication

This is a clinical test intended for Help: Diagnosis

Clinical summary

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Imported from OMIM

Arthrogryposis, renal dysfunction, and cholestasis-2 (ARCS2) is a multisystem disorder associated with abnormalities in polarized liver and kidney cells (Qiu et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of ARCS, see ARCS1 (208085).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Renal tubular acidosis
  • Arthrogryposis multiplex congenita
  • Glycosuria
  • Ventricular septal defect
  • Hepatomegaly
  • Ichthyosis
  • Jaundice
  • Kidney disorder
  • Hypotonia
  • Giant cell hepatitis
  • Nephrocalcinosis
  • Proteinuria
  • Pruritus
  • Talipes calcaneovalgus
  • Nephrogenic diabetes insipidus
  • Right ventricular hypertrophy
  • Metabolic acidosis
  • Aminoaciduria
  • Low-set ears
  • Lissencephaly
  • Conjugated hyperbilirubinemia
  • Global developmental delay
  • Cholestatic liver disease
  • Elevated hepatic transaminase
  • Sloping forehead
  • Generalized hypotonia
  • Failure to thrive
  • Microcephaly
  • Developmental dysplasia of the hip
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Conditions tested

Target population

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Not provided

Clinical validity

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This panel should be performed in all individuals suspected of having an overlapping clinical phenotype. Confirmation of a clinical diagnosis through genetic testing can allow for genetic counseling and may direct medical management. Genetic counseling can provide a patient and/or family with the natural history of the condition, identify at-risk family members, provide reproductive risks as well as preconception/prenatal options, and allow for appropriate referral for patient support and/or resources.

Citations

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Clinical utility

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IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.