Fetal akinesia deformation sequence / congenital myasthenia
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000561787.1
INHERITED DISEASESYNDROMIC DISEASEDYSMORPHOLOGY ... View more
Last updated in GTR: 2018-10-10
Last annual review date for the lab: 2023-08-03 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Congenital myasthenic syndrome; Autosomal recessive multiple pterygium syndrome; CHRNA1-Related Congenital Myasthenic Syndrome; ...
Genes (8): Help
CHRNA1 (2q31.1), CHRND (2q37.1), CHRNE (17p13.2), CHRNG (2q37.1), COLQ (3p25.1), ...
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Uni-directional Sanger sequencing
Not provided
Not provided
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Ordering Information
Offered by: Help
Institute of Human Genetics
View lab's website
Who can order: Help
  • Licensed Physician
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Genetic counseling
Test additional service: Help
Custom Prenatal Testing
Custom mutation-specific/Carrier testing
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Conditions Help
Total conditions: 7
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 8
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 2
Method Category Help
Test method Help
Instrument
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Affymetrix HotStart-IT Probe qPCR Master Mix with UDG (2X)
Sequence analysis of the entire coding region
Uni-directional Sanger sequencing
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
The sensitivity of DNA sequencing is over 99% for the detection of nucleotide base changes, small deletions and insertions in the regions analyzed.
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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