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HelpMethylmalonic 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 Main 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 College of Medicine
Baylor Genetics Laboratories
2450 Holcombe - Grand Blvd Dock
Houston, TX 77021-2024
Phone Number: (800) 411-4363
Department
Department: Send Outs
Phone Number: (206) 987-2563
CPT Codes
81479
Methodology
Method: Polymerase Chain Reaction (PCR) and sequencing
Analytical Volume: None specified
Limitations:
Reference Range
No mutation detected. Interpretive data is included with
report.
Send Out Instructions
| Reference Test Name: | MMACHC Sequence Analysis |
| Reference Test Number: |
3440 |
| Instructions: |
Ship ambient sample via FedEx Priority Overnight. Baylor does not accept Saturday delivery. |