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Test ID IDHQ IDH1 (R132) and IDH2 (R140 and R172) Quantitative Detection, Droplet Digital PCR, Varies


Shipping Instructions


1. Refrigerated specimens must arrive within 14 days of collection, and ambient specimens must arrive within 7 days of collection.

2. Collect and package specimen as close to shipping time as possible.



Necessary Information


The following information is required:

1. Pertinent clinical history

2. Date of collection

3. Specimen source (blood or bone marrow)



Specimen Required


Submit only 1 of the following specimens

 

Specimen Type: Whole blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD-B) or green top (heparin)

Specimen Volume: 4mL

Collection Instructions:

1. Invert several times to mix blood.

2. Send whole blood specimen in original tube. Do not aliquot.

3. Label specimen as blood.

Specimen Stability: Refrigerated 14 days/ Ambient 7 days

 

Specimen Type: Bone marrow aspirate

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD-B) or green top (heparin)

Specimen Volume: 2mL

Collection Instructions:

1. Invert several times to mix bone marrow.

2. Send bone marrow specimen in original tube. Do not aliquot.

3. Label specimen as bone marrow.

Specimen Stability: Refrigerated 14 days/ Ambient 7 days

 

Specimen Type: Extracted DNA from blood or bone marrow

Container/Tube: 1.5- to 2-mL tube with indication of volume and concentration of DNA

Specimen Volume: Entire specimen

Collection Instructions:

1. Label specimen as extracted DNA and source of specimen

2. Indicate volume and concentration of DNA on label. The required volume of DNA is at least 50 mcL at a concentration of 50 ng/mcL

Specimen Stability: Frozen (preferred)/Refrigerated


Useful For

Detecting IDH1 R132 and IDH2 R140 and R172 mutations in acute myeloid leukemia patients at the time of diagnosis to guide targeted therapy

 

Monitoring minimal residual disease during the clinical and therapeutic course

Genetics Test Information

A highly sensitive quantitative assay for the detection of 6 IDH1 R132 mutations (R132H, R132S, R132C, R132G, R132P, and R132L) and 10 IDH2 mutations R140 (R140Q, R140L, R140G, R140W) and R172 (R172K, R172M, R172G, R172S[G>C], R172S[G>T], R172W).

Highlights

The test can be used at the time of acute myeloid leukemia diagnosis to guide targeted therapy, as well as minimal residual disease monitoring markers during the clinical and therapeutic course of these patients.

Method Name

Droplet Digital Polymerase Chain Reaction (ddPCR)

Reporting Name

IDH1 and IDH2, Quant, ddPCR, V

Specimen Type

Varies

Specimen Minimum Volume

Whole blood: 4mL
Bone marrow: 2mL
Extracted DNA: 50 mcL at 50 ng/mcL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Varies Refrigerated (preferred) 14 days
  Ambient  7 days

Reference Values

An interpretive report will be provided.

Day(s) Performed

Monday through Saturday

Report Available

4 to 8 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

This test was developed, and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

81120

81121

LOINC Code Information

Test ID Test Order Name Order LOINC Value
IDHQ IDH1 and IDH2, Quant, ddPCR, V 95772-0

 

Result ID Test Result Name Result LOINC Value
MP063 Specimen Type 31208-2
618389 Interpretation 69047-9
618390 Signing Pathologist 18771-6

NY State Approved

Yes