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Congenital Hyperinsulinism

Specimen Container

2 lav

Specimen Collection Type

Whole bl

Minimum Volume To Collect (Ml)

8 ml

Pediatric Volume To Collect (Ml)

2 mL

Stability

Ambient Stability: 10 Days
Refrig Stability: 10 Days
Frozen Stability: Unable

Preferred Transportation Temperature

AMBIENT

Remarks

Higher blood volumes ensure adequate DNA quantity, which varies with WBC, specimen condition, and need for confirmatory testing. Patients, 0-3 years have higher WBC, yielding more DNA per mL of blood

Reported

5-7 days

Methodology

Sanger Sequencing

Lab Department

Core

Testing Location

IHC

Synonyms

Athena 819 Hypoglycemia

Test OR Panel

Test

Misc Instructions

Whole blood samples should be submitted for proband and both parents, whenever possible (for more information, please call Athena’s genetic counselor). This test requires physician attestation that patient consent has been received

CPT Codes

81403(1), 81406(2), 81407(1)

LOINC

51966-0

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