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HelpTest Code LAB3820 ABCD1 Single Gene Analysis
Additional Codes
ABCD1 Pnl
ABCD1 Gene Sequencing & Del/Dup
Clinical System Name
ABCD1 Single Gene Analysis
Synonyms
ABCD1
X-Linked Adrenoleukodystrophy
X-Linked ALD
Description
Sequencing and deletion/duplication analysis of ABCD1 to analyze genetic causes of X-Linked Adrenoleukodystrophy performed at GeneDx.
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)
Alternative 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 specimens not recommended.
Processing Instructions
Reject due to: Frozen samples are unacceptable. Hemolysis is unacceptable.
Spin: N
Aliquot: N
Temp: 2 - 8 C
Storage Location: Do not spin. Refrigerate whole blood in CPA refrigerator, Send Outs rack.
Off-site Collection: Do not spin. Send 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 | Performed | TAT |
|---|---|---|
| N | Varies | 4 w |
Performing Laboratory
GeneDx
207 Perry Parkway
Gaithersburg, MD 20877
Phone Number: (301) 519-2100
Department
Department: Send Outs/Genetic
Phone Number: (206) 987-2563
Methodology
Capillary sequencing and MLPA (multiplex ligation-dependent probe amplification)
Reference Range
Interpretive report provided.
Clinical Utility
A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.
Send Out Instructions
| Reference Test Name: |
ABCD1 Gene Sequencing & Del/Dup |
| Reference Lab Test Code: | |
| Instructions: | Ship Monday through Friday via FedEx Priority Overnight. Saturday deliveries are accepted. |