SKIV2L - NGS including CNV analysis

GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. When a laboratory updates a registered test, a new version number is assigned.: GTR000598060.1
Last updated: 2022-10-13
Annual Review past due read more
Test version history
- 598060.1, last updated: 2022-10-13

Clinical testHelpIn the U.S., clinical tests must be performed under CLIA certification. When a lab uses the same methods for a test in both clinical and research settings, the test appears as two separate GTR records. for Trichohepatoenteric syndrome 2
Offered by Centogene AG - the Rare Disease Company

Indication

This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis

Imported from GeneReviews

Trichohepatoenteric syndrome (THES), generally considered to be a neonatal enteropathy, is characterized by intractable diarrhea (seen in almost all affected children), woolly hair (seen in all), intrauterine growth restriction, facial dysmorphism, and short stature. Additional findings include poorly characterized immunodeficiency, recurrent infections, skin abnormalities, and liver disease. Mild intellectual disability (ID) is seen in about 50% of affected individuals. Less common findings include congenital heart defects and platelet anomalies. To date 52 affected individuals have been reported.

Imported from Human Phenotype Ontology (HPO)

Colitis
Diarrhea
Fetal growth restriction
Chronic hepatitis
Hepatomegaly
Hypertelorism
Immunodeficiency
Cirrhosis of liver
Premature birth
Bloody diarrhea
Decreased circulating iron concentration
Small for gestational age
Trichorrhexis nodosa
Brittle hair
Wooly hair
Chronic diarrhea
Villous atrophy
Depressed nasal bridge
Prominent forehead
Wide nasal bridge
Uncombable hair
Failure to thrive
Sparse hair

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Conditions tested

Not provided

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

Not provided

Reviews

Clinical resources

Molecular resources

Consumer resources

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.

SKIV2L - NGS including CNV analysis

Indication

Clinical summary

Imported from GeneReviews

Clinical features