Home
HelpTest Code LAB1823 CHD7 Single Gene Analysis
Additional Codes
CHD7 Gene
Clinical System Name
CHD7 Single Gene Analysis
Synonyms
CHD7
CHARGE syndrome
Description
Sequencing of CHD7 to analyze genetic causes of CHARGE Syndrome.
Sample Requirements
Specimen: Whole Blood
Container(s): Lavender Top/EDTA, Yellow/ACD
Preferred Vol: 5.0 mL
Minimum Vol: 3.0 mL (1.0 mL for small infants)
Specimen: DNA
Container(s): Sterile Plastic Tube
Preferred Vol: 5 µg -10 µg of purified DNA at a concentration of at least 100 ng/μL
Alternative Specimen (e.g. salvia or buccal): Alternate Specimen Collection Kits for Genetic Testing
Processing Instructions
Reject due to:
Spin: N
Aliquot: N
Temp: 2 - 8 C
Storage Location: Deliver blood to CPA refrigerator, Send Outs rack.
Off-site Collection: Send whole blood refrigerated.
Stability
| Specimen Type | Temperature | Time |
|---|---|---|
| Whole Blood | Room Temp | 3 d |
| Refrigerated | 7 d | |
| Frozen | Unacceptable | |
| Extracted DNA | Room Temp | 3-4 d |
| Refrigerated | 1 y | |
| Frozen | Indefinitely |
Availability
| STAT | TAT |
|---|---|
| N | 3 - 4 w |
Performing Laboratory
PreventionGenetics
3800 South Business Park Avenue
Marshfield, Wisconsin 54449
Phone Number: (715) 387-0484
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Methodology
Next-generation sequencing
Reference Range
Interpretive report is provided.
Clinical Utility
A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.
Send Out Instructions
| Reference Test Name: | CHARGE and Kallmann Syndromes via the CHD7 Gene |
| Reference Lab Test Code: | 4633 |
| Instructions: | Ship Monday through Friday via FedEx Priority Overnight. Saturday deliveries are accepted. |