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GTR Home > Tests > Congenital Myasthenic Syndrome Panel

Overview

Test name

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Congenital Myasthenic Syndrome Panel

Purpose of the test

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This is a clinical test intended for Help: Screening, Pre-symptomatic, Diagnosis, Mutation Confirmation, Monitoring, Risk Assessment

Condition

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Click Indication tab for more information.

How to order

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All samples should be shipped via overnight delivery at room temperature. No weekend or holiday deliveries. Label each specimen with the patient’s name, date of birth and date sample collected. Send specimens with complete requisition and consent form, otherwise, specimen processing may be delayed.
Order URL Help: http://dnatesting.uchicago.edu/submitting-sample

Specimen source

Saliva
Buccal swab
Fibroblasts
Cord blood
Fetal blood
Peripheral (whole) blood
Cell culture

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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Click Methodology tab for more information.

Clinical utility

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Establish or confirm diagnosis

Clinical validity

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Congenital myasthenic syndromes are inherited in an autosomal recessive, or, less frequently, autosomal dominant manner. In autosomal recessive CMS (AR-CMS), the parents of an affected child are obligate heterozygotes and therefore carry one mutant allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. In autosomal dominant CMS (AD-CMS), some individuals have an affected parent while others have a de novo mutation. The proportion of cases caused by de novo mutations is unknown. Each child of an individual with AD-CMS has a 50% chance of inheriting the mutation. Prenatal testing for pregnancies at increased risk is possible through laboratories offering either testing for the gene of interest or custom testing.

Test services

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

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.