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GTR Home > Tests > BLOC1S3 single gene sequencing

Overview

Test name

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BLOC1S3 single gene sequencing

Purpose of the test

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This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Condition

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How to order

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Blood: (1) 3-5ml in EDTA (lavender top tube); for patients under 1 year of age, we accept 1-2ml (minimum). Blood is our preferred specimen type to receive for testing. Blood Specimens should be received within 72 hours of collection if possible – maximum five days. Store specimen at ambient room temperature or refrigerate until you send; do not freeze. Extracted DNA: 10ug DNA. DNA specimens can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 5 days from collection. Saliva or prenatal specimens: Contact the lab directly at 503-227-3179 or inquiry@mvisionlab.com to confirm whether sample is suitable for the test you wish to order. MVL can mail collection kits and return packaging and labels. Kits are priced ‘at cost’ at $25 per kit plus domestic shipping costs. Email requests to inquiry@mvisionlab.com to receive a quote. Saliva can be sent at ambient temperature and express delivery should be arranged such that it arrives within 72 to 5 days from collection.
Order URL Help: https://www.molecularvisionlab.com/order-a-test/

Specimen source

Chorionic villi
Cord blood
Fetal blood
Isolated DNA
Peripheral (whole) blood
Saliva

Methodology

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Molecular Genetics
ESequence analysis of select exons
Bi-directional Sanger Sequence Analysis
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence AnalysisNext-Generation (NGS)/Massively parallel sequencing (MPS)
TTargeted variant analysis
Bi-directional Sanger Sequence Analysis

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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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Custom mutation-specific/Carrier testing

Suggested reading

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.