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Test Code SLC22A5UM SLC22A5 Sequencing and Deletion/Duplication

Clinical System Name

SLC22A5 Sequencing and Deletion/Duplication

Synonyms

Primary Carnitine Deficiency

Carnitine Deficiency

SLC22A5 sequencing and deletion/duplication assay

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA, Yellow/ACD A, or Yellow/ACD B

Preferred Vol: 3 mL

Minimum Vol: 2 mL

 

Note: Fill out clinical history form (see below) and send to main lab with sample.

Patient History for Primary Carnitine (SLC22A5) Testing

 

Processing Instructions

Reject due to: Frozen samples are unacceptable. Hemolysis is unacceptable.

Spin: N

Aliquot: N

Temp: 2 - 4 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

72 h

  Refrigerated 1 w
  Frozen

Unacceptable

 

Availability

STAT Performed TAT
N Varies 28 - 35 d

 

Performing Laboratory

ARUP Laboratories

500 Chipeta Way
Salt Lake City, UT 84108-1221

 

Phone Number: (800) 522-2787

Department

Department: Send Outs

 

Phone Number: (206) 987-2563

Reference Range

Interpretive report provided.
 

 

Methodology

Method: Polymerase Chain Reaction/Sequencing/Multiplex Ligation-dependent Probe Amplification

Analytical Volume: 2 mL Whole Blood

Limitations:

Special Instructions

Links to:

ARUP

 

Note: Fill out clinical history form (see below) and send to Main Lab with sample.

Patient History for Primary Carnitine (SLC22A5) Testing

Send Out Instructions

Reference Test Name: Primary Carnitine Deficiency (SLC22A5) Sequencing and Deletion/Duplication
Reference Test Number:

2004203

Instructions:

Send out Monday - Friday with the ARUP courier.