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Myeloproliferative / myelodysplastic syndrome [detection of somatic mutations: JAK2 (V617F … see more Myeloproliferative / myelodysplastic syndrome [detection of somatic mutations: JAK2 (V617F and exon 12), CALR (exon 9) , MPL (exon 10), ASXL1 (exon 13), CBL (exons 8 and 9), CSF3R (exons 14 – 17), DNMT3A (whole coding region), ETNK1 (exon 3), EZH2 (whole  see less
Clinical Genetic Test
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offered by
CGC Genetics
View lab's test page
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GTR Test Accession: Help GTR000610940.1
INHERITED DISEASEMUSCULOSKELETALIMMUNOLOGY ... View more
Registered in GTR: 2023-08-18
View version history
Last annual review date for the lab: 2024-10-01 LinkOut
At a Glance
Test purpose: Help
Diagnosis
Conditions (3): Help
Heyn-Sproul-Jackson syndrome; Acute myeloid leukemia; Tatton-Brown-Rahman overgrowth syndrome
Genes (15): Help
ASXL1 (20q11.21); CALR (19p13.13); CBL (11q23.3); CSF3R (1p34.3); DNMT3A (2p23.3) more...
Methods (1): Help
Molecular Genetics - Sequence analysis of select exons: 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
CGC Genetics
View lab's website
View lab's test page
Who can order: Help
  • Licensed Physician
Test Order Code: Help
5336
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
Contact [email protected]
Order URL
Test development: Help
Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)
Informed consent required: Help
Yes
Pre-test genetic counseling required: Help
Decline to answer
Post-test genetic counseling required: Help
Decline to answer
Recommended fields not provided:
Specimen source, Lab contact for this test, Test strategy
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Genes Help
Total genes: 15
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
Next-Generation (NGS)/Massively parallel sequencing (MPS)
* Instrument: Not provided
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
Availability: Help
Tests performed
Entire test performed in-house
Analytical Validity: Help
Greather than 99%
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
Category: Not Applicable
Additional Information
Consumer resources:

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