Burç Genetik Tanı Merkezi - Mobil

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Burç Genetik Tanı Merkezi - Mobil
Phenylketonuria, PKU
 

Disease/Test Name

Gene Name & Method

Diagnostic Value

Turn Around Time

Price

Phenylketonuria, PKU

PAH Mutation Analysis

 (L48S, R158Q, R261Q, G272X, R408W, IVS10nt546)

30-50%

30 Days

Ücret / Price

PAH Sequence Variants

99%

2 Months

Ücret / Price

Disease Name (Synonym)

Disease

OMIM

Inheritance

Gene

Gene

OMIM

Locus

Protein

- PAH Deficiency

- Hyperphenylalaninemia

261600

Autosomal Recessive

PAH

x

12q24.1

Phenylalanine Hydroxylase

DNA

CDS

Exon

79,28 kb

1359 bp

13

 

Sample

Volume

Tube

Transport

Unacceptable Conditions

Remarks

BloodEDTA

5 ml

Lavender-top

18-24 C0

Frozen, hemolyzed specimens

The sample should be send with written consent of the patient.