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Methylmalonic Aciduria and Homocystinuria

Clinical System Name

Miscellaneous Test

Synonyms

MMACHC

Sample Requirements

Specimen: Whole Blood

Container(s): Lavender/EDTA

Preferred Vol: 5.0 mL

Minimum Vol: 3.0 mL

 

Note:  Monday - Thursday AM collection is preferred. Deliver to the Lab immediately.

Processing Instructions

Reject due to:

Spin: N

Aliquot:N

Temp: RT

Storage location:  Process sample immediately. Do not spin. If collected M - Th AM, affix large Cerner labels to tubes and place in room temp send-outs rack. If sample is NOT collected M - Th AM, affix large Cerner labels to tubes and place in refrigerator send-outs rack.

 

Off-site collection: Do not spin. Refrigerate specimen. Deliver to Children's Lab immediately. Collect M - Th AM only.

Stability

Specimen Type Temperature Time
Whole Blood Room temp

 

  Refrigerated  
  Frozen

N

 

Availability

STAT Performed TAT
N Drawn M - Th 2 - 4  w

 

Performing Laboratory

Baylor Medical Genetics Lab

Department

Department:  

Baylor Medical Genetics Lab

2450 Holcombe
Grand Blvd Receiving Dock
Houston, TX 77021-2024
 

Phone Number

(800) 411-GENE (4363)

 

 

 

Reference Range

No mutation detected. Interpretive data is included with report.
 

 

 

 

Methodology

Method: Polymerase Chain Reaction (PCR) and sequencing

Analytical Volume: None specified

Limitations:

CPT Codes

81479

Send Out Instructions

 

Reference Test Name: MMACHC Sequence Analysis
Reference Test Number:

3440

Instructions:

Ship at room temperature, avoid freezing sample. Send overnight via FedEX.