COL2A1 Deletion/Duplication Analysis (Prenatal Diagnosis)
Clinical Genetic Test
offered by
GTR Test Accession: Help GTR000511916.2
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; ...
Achondrogenesis type II; Avascular necrosis of femoral head, primary, 1; Kniest dysplasia; ...
Genes (1): Help
COL2A1 (12q13.11)
Molecular Genetics - Deletion/duplication analysis: Multiplex Ligation-dependent Probe Amplification (MLPA)
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
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: 10
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 1
Gene Associated Condition Germline or Somatic Allele (Lab-provided) Variant in NCBI
Total methods: 1
Method Category Help
Test method Help
Instrument *
Deletion/duplication analysis
Multiplex Ligation-dependent Probe Amplification (MLPA)
* 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 Specificity >99% Precision >99% aCGH Analytical Sensitivity >99%. Analytical Specificity >98% for deletions/duplications >1.0kb in the targeted gene region
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
Recommended fields not provided:
Regulatory Approval
FDA Review: Help
Not provided
Additional Information

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