GJC2 Sequence Analysis
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000511980.2
INHERITED DISEASENERVOUS SYSTEMIMMUNOLOGY ... View more
Last updated in GTR: 2019-07-01
Last annual review date for the lab: 2023-07-21 LinkOut
At a Glance
Diagnosis; Mutation Confirmation; Pre-symptomatic; ...
Hypomyelinating leukodystrophy 2; Hereditary spastic paraplegia 44; Lymphatic malformation 3
Genes (1): Help
GJC2 (1q42.13)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis
General population with clinical diagnosis of disease
Not provided
Not provided
Ordering Information
Offered by: Help
Baylor Genetics
View lab's website
Test Order Code: Help
6550
Informed consent required: Help
Decline to answer
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: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis; Mutation Confirmation; Pre-symptomatic; Risk Assessment; Screening
Target population: Help
General population with clinical diagnosis of disease
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Analytical Sensitivity >99%. Analytical Specificity >99% Precision >99%
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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