Code

Test Name

Method

Mutation/

Exon

Diagnostic Value

Time

Price

70060

- 22q11.2 Deletion Analysis

- Del 22q11.2

FISH (Fluorescent in-situ hybridization)

DGCR Deletion Analysis

> %95

20 Days

Disease

Disease OMIM

Inheritance

Critical Gene Region

Gene OMIM

Locus

Protein

- DiGeorge Syndrome (DGS)

- Velocardiofacial Syndrome (VCFS)

- Shprintzen Syndrome

- Conotruncal Anomaly Face Syndrome  (CTAF)

- Caylor Kardiyofasial Syndrome

- Opitz G/BBB Syndrome ( Autosomal Dominant)

- CATCH22

188400(DGS)

192430(VCFS)

Autosomal Dominant

DGCR

?

22q11.2

X

Sample

Volume

Tube

Transport

Unacceptable Conditions

Remarks

Blood^Hep

3-5 ml

Green-top

2-8 C⁰

Frozen, coagulated specimens

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

AF

10-20 ml

CVS

10 mg