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Test ID HCMM Homocysteine (Total), Methylmalonic Acid, and Methylcitric Acid, Blood Spot

Useful For

Second-tier assay of newborn screening specimens when abnormal propionyl carnitine or methionine concentrations are identified in a primary newborn screen

Method Name

Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS)

Reporting Name

HCMM, BS

Specimen Type

Whole blood


Specimen Required


Supplies: Card-Blood Spot Collection (Filter Paper) (T493)

Container/Tube:

Preferred: Card-Blood Spot Collection (Filter Paper) from heel or finger stick

Acceptable: Local newborn screening card, Whatman Protein Saver 903 paper

Specimen Volume: 2 blood spots

Collection Instructions:

1. Do not use device or capillary tube containing EDTA or ACD to collect specimen. Sodium heparin is acceptable, but must be spotted on card the same day as collected.

2. Completely fill at least 2 circles on the filter paper card (approximately 100 microliters blood per circle).

3. Let blood dry on filter paper at ambient temperature in a horizontal position for 3 or more hours.

4. Do not expose specimen to heat or direct sunlight.

5. Do not stack wet specimens.

6. Keep specimen dry.

Additional Information:

1. For collection instructions in Spanish, see Blood Spot Collection Card-Spanish Instructions (T777) in Special Instructions.

2. For collection instructions in Chinese, see Blood Spot Collection Card-Chinese Instructions (T800) in Special Instructions.


Specimen Minimum Volume

Blood spot: 1

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) FILTER PAPER
  Frozen  FILTER PAPER
  Refrigerated  FILTER PAPER

Reference Values

HOMOCYSTEINE:

<15.0 nmol/Ml

 

METHYLMALONIC ACID:

<5.0 nmol/Ml

 

METHYLCITRIC ACID:

<1.0 nmol/Ml

 

An interpretive report will also be provided.

Day(s) and Time(s) Performed

Monday, Thursday; 8 a.m.

Performing Laboratory

Mayo Clinic Laboratories in Rochester

CPT Code Information

83090-Homocysteine

83918-Methylmalonic acid and methylcitric acid

LOINC Code Information

Test ID Test Order Name Order LOINC Value
HCMM HCMM, BS In Process

 

Result ID Test Result Name Result LOINC Value
50252 Homocysteine 54301-7
50253 Methylmalonic Acid 82385-6
50254 Methylcitric Acid 82386-4
50255 Interpretation 59462-2
50257 Reviewed By 18771-6

Test Classification

This test was developed and its performance characteristics determined by Mayo Clinic in a manner consistent with CLIA requirements. This test has not been cleared or approved by the U.S. Food and Drug Administration.

NY State Approved

Yes

Forms

1. Biochemical Genetics Patient Information (T602) in Special Instructions.

2. If not ordering electronically, complete, print, and send an Inborn Errors of Metabolism Test Request (T798) with the specimen.