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Test Code LAB2824 Autism/ID Xpanded Panel

Important Note

Note that this panel uses a trio approach that includes concurrent analysis of the patient (proband) and both parents.

Requires referral to Genetic Counseling Clinic for pre-test counseling and sample coordination.

Clinical System Name

Autism/ID Xpanded Panel

Synonyms

Autism

Intellectual Disability Panel

A/ID

Description

Panel sequencing to analyze genetic causes of autism spectrum disorder (ASD) and/or intellectual disability (ID) performed at GeneDx. Select gene sequence analysis is performed on the affected individual (i.e., the proband) and, when submitted together for analysis, biological parental samples, and/or additional biological relatives as needed. Standardly, a report is issued only for the proband.

Sample Requirements

Preferred sample is whole blood

 

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 5 mL

Minimum Vol: 2 mL (1mL is acceptable for infants)

 

 

Specimen: DNA

Container(s): Sterile plastic tube

Preferred Vol: 5 µg of purified DNA at a concentration of ≥50 ng/µL AND a volume of ≥100 µL

 

 

Specimen: Buccal Swabs

Container(s): Oragene Dx OGD-100 collection kit

Information about alternate specimen collection kits can be found here on LabMan.

 

 

Dried blood spots are also accepted.

 

Processing Instructions

Reject due to:

Spin: N

Aliquot: N

Temp: 2 - 4 C

Storage location: Refrigerate in CPA refrigerator Sendouts rack. Samples drawn on a Friday can be refrigerated until Monday shipment. Samples drawn on a Friday before a Monday holiday must have DNA extraction.

 

Off-site collection: Send whole blood refrigerated.

Stability

Specimen Type Temperature Time
Whole Blood Room temp 3 d
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   6 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

Next-generation sequencing with CNV calling of exons for select genes

Reference Range

Interpretive report is provided
 

Clinical Utility

A genetic diagnosis may have implications for treatment, management, recurrence risk, and family member testing.

Resources

Reference Lab Test Page

Test Information Sheet

Send Out Instructions

Reference Test Name:

Autism/ID Xpanded Panel
Reference Test Number: 952
Instructions: GeneDx accepts Saturday delivery. Whole blood specimens may be stored refrigerated for up to 7 days prior to shipping. Ship overnight via FedEx M - F, ambient temperature.