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GTR Home > Tests > KIF1B MLPA

Overview

Test name

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KIF1B MLPA

Purpose of the test

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This is a clinical test intended for Help: Screening

Condition

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How to order

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informed consent and requisition form
Order URL Help: https://www.uniklinik-freiburg.de/humangenetik/formulare-infos.html

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)

Summary of what is tested

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Clinical utility

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Not provided

Clinical validity

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Not provided

Test services

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  • Custom mutation-specific/Carrier testing, Order code: Pre-test email/phone consultation regarding genetic test results and interpretation is provided to patients/families.

Practice guidelines

  • EuroGenetest, 2010
    Clinical utility gene card for: HMSN/HNPP HMSN types 1, 2, 3, 6 (CMT1,2,4, DSN, CHN, GAN, CCFDN, HNA); HNPP

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.