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Fetal akinesia deformation sequence / congenital myasthenia
Clinical Genetic Test
Help
offered by
Institute of Human Genetics
GTR Test Accession: Help GTR000561787.1
INHERITED DISEASESYNDROMIC DISEASENERVOUS SYSTEM ... View more
Last updated in GTR: 2018-10-10
View version history
Last annual review date for the lab: 2023-08-03 LinkOut
At a Glance
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Conditions (7): Help
Congenital myasthenic syndrome; Autosomal recessive multiple pterygium syndrome; CHRNA1-Related Congenital Myasthenic Syndrome more...
Genes (8): Help
CHRNA1 (2q31.1); CHRND (2q37.1); CHRNE (17p13.2); CHRNG (2q37.1); COLQ (3p25.1) more...
Methods (2): Help
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Uni-directional Sanger sequencing
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
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:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Test strategy, Test development
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:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, Are family members with defined clinical status recruited to assess significance of VUS without charge?, Will the lab re-contact the ordering physician if variant interpretation changes?, Is research allowed on the sample after clinical testing is complete?, Sample negative report, Sample positive report
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:
Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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