Calreticulin Exon 9 Mutation, MPL Mutation analysis and JAK2 Exons12-15 Mutation Analysis - Clinical Genetic Test - GTR

Calreticulin Exon 9 Mutation, MPL Mutation analysis and JAK2 Exons12-15 … see more Calreticulin Exon 9 Mutation, MPL Mutation analysis and JAK2 Exons12-15 Mutation Analysis see less

Clinical Genetic Test

offered by

PathGroup

View lab's test page

GTR Test Accession: GTR000575367.1

CAP

CANCERHEMATOLOGYMUSCULOSKELETAL ... View more

Registered in GTR: 2020-03-03

Last annual review date for the lab: 2022-12-28 Past due

At a Glance

Test purpose:

Diagnosis

Conditions (9):

Thrombocythemia 1; Acquired polycythemia vera; Essential thrombocythemia more...

Genes (3):

CALR (19p13.13); JAK2 (9p24.1); MPL (1p34.2)

Methods (2):

Molecular Genetics - Targeted variant analysis: Next-Generation (NGS)/Massively parallel sequencing (MPS); PCR

Target population:

Myeloproliferative neoplasms, essential thrombocythemia, myelofibrosis

Clinical validity:

Not provided

Clinical utility:

Not provided

Ordering Information

Offered by:

PathGroup
View lab's website
View lab's test page

Test short name:

CALR_MPL_JAK2_expanded

Specimen Source:

Bone marrow
Peripheral (whole) blood

Who can order:

Health Care Provider

Test Order Code:

CALR_MPL_JAK2_expanded
View other test codes

CPT codes:

**AMA CPT codes notice

Contact Policy:

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:

CALR_MPL_JAK2_expanded

Test development:

Test developed by laboratory but exempt from FDA oversight (eg. NYS CLEP approved, offered within a hospital or clinic)

Informed consent required:

Pre-test genetic counseling required:

Post-test genetic counseling required:

Recommended fields not provided:

Lab contact for this test, Test strategy

Conditions

Total conditions: 9

Condition/Phenotype	Identifier

Test Targets

Genes

Total genes: 3

Gene	Associated Condition	Germline or Somatic	Allele (Lab-provided)	Variant in NCBI

Methodology

Total methods: 2

Method Category

Test method

Instrument *

Targeted variant analysis

Next-Generation (NGS)/Massively parallel sequencing (MPS)

Targeted variant analysis

PCR

* Instrument: Not provided

Clinical Information

Test purpose:

Diagnosis

Target population:

Myeloproliferative neoplasms, essential thrombocythemia, myelofibrosis

Recommended fields not provided:

Clinical validity, Clinical utility, 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:

Tests performed
Entire test performed in-house

Analytical Validity:

CALR: Analytic sensitivity of 1%. Analytic specificity of >99%. MPL and JAK2: Analytic sensitivity >99% when variant is present at >5% VAF. Analytic specificity of >99%. Precision and reproducibility of >98%.

Proficiency testing (PT):

Is proficiency testing performed for this test?
Yes

Method used for proficiency testing:
Formal PT program

PT Provider:
American College of Medical Genetics / College of American Pathologists, ACMG/CAP

Recommended fields not provided:

Test Confirmation, Assay limitations, Description of internal test validation method, Citations for Analytical validity, Description of PT method, Major CAP category, CAP category, CAP test list

Regulatory Approval

FDA Review:

Category: FDA exercises enforcement discretion

Additional Information

Reviews:

PubMed Clinical Queries

Clinical resources:

Molecular resources:

View CALR variations in ClinVar

View THPO variations in ClinVar

View SH2B3 variations in ClinVar

RefSeqGene

Coriell Institute for Medical Research

Consumer resources:

MalaCards

MedlinePlusGenetics (GHR)

MedlinePlus

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.