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Comprehensive Skeletal Dysplasias and Disorders Panel
Clinical Genetic Test
Help
offered by
Blueprint Genetics
View lab's test page
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GTR Test Accession: Help GTR000558787.2
INHERITED DISEASEMUSCULOSKELETAL
Last updated in GTR: 2018-07-26
View version history
Last annual review date for the lab: 2025-12-26 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (1): Help
Skeletal dysplasia
Genes (246): Help
ACAN (15q26.1); ACP5 (19p13.2); ACVR1 (2q24.1); ADAMTS10 (19p13.2); ADAMTS17 (15q26.3) more...
Methods (2): Help
Molecular Genetics - Deletion/duplication analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); ...
Target population: Help
Not provided
Clinical validity: Help
Not provided
Clinical utility: Help
Not provided
Ordering Information
Offered by: Help
Blueprint Genetics
View lab's website
View lab's test page
Specimen Source: Help
Who can order: Help
  • Health Care Provider
Test Order Code: Help
MA3301
View other test codes
Contact Policy: Help
Laboratory can only accept contact from health care providers. Patients/families are encouraged to discuss genetic testing options with their health care provider.
How to Order: Help
Choose the preferred way to order:

1) Online ordering: place the order in Nucleus.

2) PDF ordering: download a form, fill in and mail.

3) Sample kit: use Blueprint Kit with sample tube, requisition form and prepaid return.
Order URL
Test service: Help
Clinical Testing/Confirmation of Mutations Identified Previously
Test development: Help
Test developed by laboratory (no manufacturer test name)
Informed consent required: Help
No
Pre-test genetic counseling required: Help
No
Post-test genetic counseling required: Help
No
Recommended fields not provided:
Lab contact for this test, Test strategy
Conditions Help
Total conditions: 1
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 246
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina Novaseq
Sequence analysis of the entire coding region
Next-Generation (NGS)/Massively parallel sequencing (MPS)
Illumina Novaseq
Clinical Information
Test purpose: Help
Diagnosis
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
Test Procedure: Help
https://blueprintgenetics.com/methods-and-services/
Test Confirmation: Help
Blueprint Genetics confirms all pathogenic or likely pathogenic mutations using Sanger capillary sequencing or qPCR.
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
All NGS Panels provided by Blueprint Genetics are sliced from custom high-quality whole exome sequencing assay (xGen Exome Research Panel, IDT). Panels cover all coding exons, exon-intron boundaries (± 20 bps) and selected non-coding, deep intronic variants of the genes included in the panel unless otherwise stated in the panel … View more
Proficiency testing (PT):
Is proficiency testing performed for this test? Help
No
Recommended fields not provided:
Assay limitations, Description of internal test validation method, Citations for Analytical validity, Is proficiency testing performed for this test, PT Provider, Description of PT method, Major CAP category, CAP category, CAP test list
Regulatory Approval
FDA Review: Help
Category: Not Applicable
Additional Information
Consumer resources:

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.