ATP6V1A - Cutis laxa, autosomal recessive
GTR Test Accession: Help GTR000567487.1
INHERITED DISEASECONNECTIVE TISSUEDYSMORPHOLOGY ... View more
Last updated in GTR: 2019-04-26
Last annual review date for the lab: 2024-01-30 LinkOut
At a Glance
Diagnosis
Autosomal recessive cutis laxa type 2D; Epileptic encephalopathy, infantile or early childhood, 3
Genes (1): Help
ATP6V1A (3q13.31)
Molecular Genetics - Sequence analysis of the entire coding region: Bi-directional Sanger Sequence Analysis; Next-Generation (NGS)/Massively parallel sequencing (MPS)
Patients with autosomal recessive Cutis laxa
Not provided
Not provided
Ordering Information
Offered by: Help
Translational Metabolic Laboratory
View lab's website
View lab's test page
Test Order Code: Help
atp6v1a-cutis-laxa-autosomal-recessive
How to Order: Help
See website
Order URL
Test development: Help
Test developed by laboratory (no manufacturer test name)
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: 2
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: 2
Method Category Help
Test method Help
Instrument *
Sequence analysis of the entire coding region
Bi-directional Sanger Sequence Analysis
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Target population: Help
Patients with autosomal recessive Cutis laxa
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
With bidirectional Sanger sequencing, we have over 99.99% accuracy. With NGS, accuracy is over 99.8%. Mutation detection reproducibility is consistently reliable at 100%.
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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