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Test Code CHD7 D/D CHD7 Deletion/Duplication

Additional Codes

CHD7 D/D

Clinical System Name

CHD7 Deletion/Duplication

Synonyms

CHARGE Syndrome Deletion/Duplication

Description

CHARGE is a mnemonic for coloboma, heart defects, choanal atresia, retarded growth and development, genital abnormalities, and ear anomalies. Additional features include hypogonadotropic hypogonadism, which manifests as incomplete or absent puberty and infertility; genital hypoplasia; growth and developmental delay; a wide variety of heart defects; cleft lip or palate; and distinctive facial features. CHARGE syndrome is usually diagnosed during childhood. Diagnosis is made based on the presence of a combination of major and minor clinical features. The diagnosis of CHARGE syndrome is based on clinical findings and temporal bone imaging.

Sample Requirements

Specimen: Whole Blood, Yello/ACD (Solution A or B)

Container(s): EDTA

Preferred Vol: 5 mL

Minimum Vol: 3 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol:  15 µg of purified DNA at a concentration of at least 20 µg/ml

Minimum Vol:

Processing Instructions

Reject due to

Spin: N

Aliquot: N

Temp: 2-8 C

Storage location: Deliver blood to Sendouts refrigerator rack Store labels in the clear plastic box on front of the CPA fridge.

Off-site collection: Send whole blood refrigerated

Stability

Specimen Type Temperature Time
Whole blood Room temp 48 h
Whole blood Refrigerated 7 d
Whole blood Frozen N
Extracted DNA Room temp 3-4 d
Extracted DNA Refrigerated 1 y
Extracted DNA Frozen Indefinitely

 

Availability

STAT Performed TAT
N   3 - 5 w

 

Performing Laboratory

PreventionGenetics

 

Department

Department:  Prevention Genetics, 3700 Downwind Dr, Marshfield, WI 54449

Phone Number: (715) 387-0484

Reference Range

Interpretive report is provided

Methodology

Method: Sequencing is performed separately in both the forward and reverse directions.

Analytical Volume:

Limitations:

CPT Codes

81479 (Updated 10/11/2016 by sstasi)

Special Instructions

Links to:

Prevention Genetics

 

Sample details, PreventionGenetics

 

Send Out Instructions

Reference Test Name: Deletion/Duplication Testing Via Array Comparative Genomic Hybridization - CHD7
Reference Test Number: 600
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery

 

Clinical Utility

GeneReviews: CHARGE syndrome