Lynch syndrome/HNPCC (MLH1, MSH2, MSH6, PMS2, TACSTD1)
GTR Test Accession: Help GTR000504104.1
CANCERDIGESTIVE SYSTEMINHERITED DISEASE ... View more
Last updated in GTR: 2013-06-28
Last annual review date for the lab: 2021-11-30 Past due LinkOut
At a Glance
Diagnosis; Mutation Confirmation
Carcinoma of colon; Lynch syndrome
Genes (5): Help
EPCAM (2p21), MLH1 (3p22.2), MSH2 (2p21-16.3), MSH6 (2p16.3), PMS2 (7p22.1)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Center for Human Genetics, Inc
View lab's website
View lab's test page
Specimen Source: Help
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Blood collected in lavender top collection tubes or extracted DNA should be submitted along with a completed Molecular DNA Test Requisition form.
Order URL
Informed consent required: Help
Decline to answer
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 2
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 5
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
greater than 99%
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Yes

Method used for proficiency testing: Help
Intra-Laboratory
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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