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case western reserve university

Center for Inherited Disorders of Energy Metabolism

 

23-Gene NGS Pyruvate Metabolism and Related Disorders Panel

 

Indications:


Method Description:

Next generation sequencing: PDHA1, PDHB, DLAT, DLD, PDHX, PDK1, PDK2, PDK3, PDK4, SLC19A2, SLC19A3, SLC25A19, TPK1, LIAS, LIPT1, LIPT2, BOLA3, NFU1, PC, PCK1, PCK2

Specimen
Specimen Requirements
Shipping Requirements
ACD Blood for Lymphocytes
(necessary only when doing combined PDC/ Pyruvate panel)

REQUIRES ADVANCE SCHEDULING

Amt Required varies with patient age.

You will be informed of the required volume when you schedule.

20ml of control blood from an unrelated adult volunteer, drawn at the same time and in the same way as the patient is also REQUIRED!

Collect blood in ACD or CPD-A1 using sterile technique.

*ACD is available in yellow stoppered Vacutainer tubes.

*CPD-A1 is an anticoagulant/preservative mixture used routinely in blood banks.

It is also possible to obtain CPD-A1 in a blood pack unit (from the blood bank), and to then transfer the CPD-A1 to plain sterile Vacutainer tubes. If neither is available, use whatever equivalent mixture is in your blood bank and note this on the sample. Use an equivalent proportion of the mixture/blood sample as would be used routinely in collecting blood.

NOTE:

Yellow stoppered Vacutainer tubes containing SPS, for use in microbiology, are not suitable for enzyme assays.

 

Ship tubes in a styrofoam box at room temperature on the day you have scheduled to send the blood to our laboratory with enough packing material, so that the tubes do not crack or break during shipment. Indicate clearly on the container: Room Temperature Do Not Freeze.

If for any reason you are not able to ship on your scheduled day, please notify us.

NOTE:

***We do not accept unscheduled blood, so please contact our laboratory to schedule a shipment time***

EDTA blood

Collect blood in EDTA using sterile technique.

*EDTA is available in purple stoppered Vacutainer tubes.

 

Minimum Amt Required: 

 

Ship with above.

 

Samples Accepted: Monday - Friday, 8:30 AM - 5:00 PM

Turn-Around-Time:

6 weeks for NGS panel

1 week for PDC on blood lymphocyte

CPT Codes for assay of blood lymphocytes: 

Specimens can be sent via Federal Express, DHL, or UPS using Overnight Priority/Next Morning service.

 

 

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