MSH6 - MLPA

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.: GTR000600356.1
Last updated: 2022-11-01
Annual Review past due read more
Test version history
- 600356.1, last updated: 2022-11-01

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 Mismatch repair cancer syndrome 3
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 OMIM

Mismatch repair cancer syndrome-3 (MMRCS3) is an autosomal recessive childhood cancer predisposition syndrome characterized by brain tumors, hematologic malignancy, and gastrointestinal tumors. Multiple cafe-au-lait spots, axillary freckling, and, rarely, Lisch nodules reminiscent of neurofibromatosis type I (NF1; 162200) may be present (Hegde et al., 2005, Ostergaard et al., 2005). Microsatellite instability may be detected in tumor samples (Hegde et al., 2005). For a discussion of genetic heterogeneity of mismatch repair cancer syndrome, see MMRCS1 (276300).

Imported from Human Phenotype Ontology (HPO)

Astrocytoma
Colon cancer
Lymphoma
Neoplasm of the rectum
T-cell lymphoma
Glioblastoma multiforme
Lisch nodules
Axillary freckling
Cafe au lait spots, multiple

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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.

MSH6 - MLPA

Indication

Clinical summary

Imported from OMIM

Clinical features