This test is designed to detect carriers of phenylketonuria. Phenylketonuria (PKU) is an autosomal recessive disorder resulting from faulty metabolism of the amino acid, phenylalanine. In individuals with untreated PKU, dietary intake of phenylalanine can lead to profound intellectual disability, behavioral issues, epilepsy, hypopigmentation, and a musty body odor.read more

Tests Available

By gene: PAH
Next Gen Sequencing & Del/Dup Analysis
$840
Test Code: 6007
Please call for pricing

Test Details

Technical Information
Genes: 
PAH
Test Note: 
Please call for pricing
Disease Groups: 
Carrier Screening
MIM: 
261600
Billing
CPT Codes: 
81406 x 1
Ordering
SKU:
6007
Turnaround Time: 

Typically within 2 weeks from receipt of a sample in the laboratory.

Non-Prenatal Specimens: 

1. Whole blood: purple-top (EDTA) tube, minimum of 3 ml

2. Genomic DNA: a minimum of 3 ug (at a concentration of at least 30 ng/ul)

Shipping: 

Ship all specimen types at room temperature by overnight courier. Do no freeze.

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