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GTR Home > Tests > RYR1

Overview

Test name

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RYR1

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: http://www.mgz-muenchen.de/homepage.html

Specimen source

Amniotic fluid
Buccal swab
Cell culture
Chorionic villi
Cord blood
Dried blood spot (DBS) card
Fetal blood
Fibroblasts
Fresh tissue
Frozen tissue
Paraffin block
Peripheral (whole) blood
Product of conception (POC)
Urine

Methodology

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Molecular Genetics
DDeletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
CSequence analysis of the entire coding region
Bi-directional Sanger Sequence AnalysisNext-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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Not provided

Test services

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  • Clinical Testing/Confirmation of Mutations Identified Previously
  • Genetic counseling
  • Identity Testing
  • Preimplantation Genetic Diagnosis (PGD)
  • Result interpretation
  • Uniparental Disomy (UPD) Testing
  • X-Chromosome Inactivation Studies

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.