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SCYL1BP1 mutational analysis
Clinical Genetic Test
Help
offered by
Connective Tissue Laboratory
GTR Test Accession: Help GTR000522029.1
INHERITED DISEASEDYSMORPHOLOGYCONNECTIVE TISSUE ... View more
Registered in GTR: 2015-03-31
View version history
Last annual review date for the lab: 2024-01-16 LinkOut
At a Glance
Test purpose: Help
Mutation Confirmation
Conditions (14): Help
Cutis laxa with osteodystrophy; ALDH18A1-related de Barsy syndrome; Autosomal recessive cutis laxa type 2B more...
Genes (1): Help
GORAB (1q24.2)
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: Bi-directional Sanger Sequence Analysis
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Connective Tissue Laboratory
View lab's website
Pre-test genetic counseling required: Help
Not provided
Post-test genetic counseling required: Help
Not provided
Recommended fields not provided:
Test Order Code, How to Order, Specimen source, Lab contact for this test, Contact policy, Informed consent required, Pre-test genetic counseling required, Post-test genetic counseling required, Test strategy, Test development
Conditions Help
Total conditions: 14
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 select exons
Bi-directional Sanger Sequence Analysis
* Instrument: Not provided
Clinical Information
Test purpose: Help
Mutation Confirmation
Recommended fields not provided:
Clinical validity, Clinical utility, Target population, What is the protocol for interpreting a variation as a VUS?, 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
Bi-directional Sanger Sequence Analysis allows the identification of 98% of the mutations.
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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