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Test Code CHD7 Seq CHD7 Sequencing

Clinical System Name

CHD7 Sequencing

Synonyms

CHD7

CHARGE syndrome

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

Container(s): Lavender Top/EDTA, Yellow/ACD

Preferred Vol: 3-5 mL

Minimum Vol: 2 mL

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol:  10 µg of purified DNA at a concentration of at least 50 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 TAT
N 3 - 4 w

 

Performing Laboratory

PreventionGenetics

Department

Department:     PreventionGenetics, 3800 S. Business Park Ave., Marshfield, Wisconsin 54449

Phone Number:    (715) 387-0484

Reference Range

Interpretive report is provided.

Methodology

Method: Next Generation Sequencing of the full coding regions plus ~20 bp of non-coding DNA flanking each exon are sequenced. Additional Sanger sequencing is performed for any regions not captured or with insufficient number of sequence reads. All pathogenic, likely pathogenic, or variants of uncertain significance are confirmed by Sanger sequencing.

Analytical Volume:

Limitations:

CPT Codes

81407     (Updated 11/29/2016 by sstasi)

Special Instructions

Links to:

 

PreventionGenetics

 

Sample details, PreventionGenetics

Clinical Utility

GeneReviews: CHARGE syndrome

 

 

 

Send Out Instructions

Reference Test Name: CHARGE and Kallmann Syndromes via the CHD7 Gene
Reference Test Number: 4633
Instructions: Ship whole blood overnight, ambient temperature. PreventionGenetics accepts Saturday delivery.