Platyspondylic skeletal dysplasia, Torrance type
Clinical Genetic Test
Help
offered by
GTR Test Accession: Help GTR000504886.1
INHERITED DISEASECONNECTIVE TISSUEMUSCULOSKELETAL ... View more
Last updated in GTR: 2013-07-05
Last annual review date for the lab: 2022-11-24 Past due LinkOut
At a Glance
Diagnosis
Platyspondylic dysplasia, Torrance type
Genes (1): Help
COL2A1 (12q13.11)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA); ...
Not provided
Not provided
Not provided
Ordering Information
Offered by: Help
Praxis fuer Humangenetik Wien
View lab's website
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: 1
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 *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
Clinical Information
Test purpose: Help
Diagnosis
Recommended fields not provided:
Technical Information
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Sequencing system Roche GS Junior 454: Q20 read length of 400 bases (99% accuracy at 400 bases and higher for preceding bases)(Roche). Error rates usually originate in homopolymeric stretches. If such problems are encountered or if pathogenic sequence variants are found, we validate the NGS data with Sanger sequencing. MLPA … View more
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

IMPORTANT NOTE: NIH does not independently verify information submitted to GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.