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GTR Home > Tests > MLH1 - NGS including CNV analysis

Overview

Test name

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MLH1 - NGS including CNV analysis

Purpose of the test

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This is a clinical test intended for Help: Diagnosis

Condition

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How to order

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Order URL Help: https://www.centogene.com/diagnostics/how-to-order

Specimen source

Fetal blood
Isolated DNA
Bone marrow
Fibroblasts
Peripheral (whole) blood
Product of conception (POC)
Saliva
Buccal swab
Cell culture
Amniotic fluid
Dried blood spot (DBS) card
Chorionic villi

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Next-Generation (NGS)/Massively parallel sequencing (MPS)
CSequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)

Summary of what is tested

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Clinical utility

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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

Not provided

Test services

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  • Custom Sequence Analysis
  • Custom Deletion/Duplication Testing
  • Result interpretation
  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom mutation-specific/Carrier testing

Suggested reading

Practice guidelines

  • NCCN, 2023
    NCCN Clinical Practice Guidelines in Oncology (NCCN Guidelines®) Colon Cancer, 2023
  • NICE, 2020
    UK NICE Diagnostics Guidance DG42, Testing strategies for Lynch syndrome in people with endometrial cancer, 2020
  • ACMG ACT, 2019
    American College of Medical Genetics and Genomics, Genomic Testing (Secondary Findings) ACT Sheet, MLH1, MSH2, MSH6, PMS2, EPCAM Pathogenic Variants, Lynch Syndrome (Hereditary Non-polyposis Colon Cancer [HNPCC]), 2019
  • SGO, 2014
    Society of Gynecologic Oncology (SGO) Clinical Practice Statement: Screening for Lynch Syndrome in Endometrial Cancer
  • ACMG ACT, 2012
    American College of Medical Genetics and Genomics Family History ACT Sheet, Colon Cancer (Asymptomatic), 2012

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.