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Lab Test Dictionary

Galactosemia Mutation Analysis (16613X)

Methodology

Polymerase Chain Reaction (PCR); Single Nucleotide Primer Extension


Specimen Type

Whole Blood

Performing Lab

Quest Diagnostics San Juan Capistrano


Epic ID

Other Reference Test

Lab Test Days

Tuesday

Standard TAT

10 Days


Collection Information

Specimen Required

3-5 mL Whole Blood

Container Type

Lavender (EDTA)

Collection Instructions

Whole blood collected in an ACD solution A/B (yellow-top), lithium heparin (green-top), or sodium heparin (green-top) tube is also acceptable.


Processing Information - Lab Use Only

Transport Temperature

Refrigerate-OK/Ambient-OK

Specimen Stability

Room Temp: 8 Days; Refrigerated: 8 Days; Frozen: Unacceptable

Test Volume Required

5 mL Whole Blood

Minimum Test Volume

3 mL Whole Blood


Comments

Detects more than 80% of the classic galactosemia mutations. Insurance authorization required prior to draw for outpatients. MJ approval required for inpatients.


CPT Codes

81401


Revised

07-24-16

Initials

SL