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Test Code MPS3B Mucopolysaccharidosis III, Three-Enzyme Panel, Blood Spot


Necessary Information


1. Patient's age is required.

2. Reason for testing is required



Specimen Required


Submit only 1 of the following specimen types:

 

Preferred:

Specimen Type: Blood spot

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

Container/Tube:

Preferred: Blood Spot Collection Card

Acceptable: Whatman Protein Saver 903 Paper, PerkinElmer 226 filter paper, Munktell filter paper, or blood collected in tubes containing ACD or EDTA and dried on filter paper.

Specimen Volume: 2 Blood spots

Collection Instructions:

1. An alternative blood collection option for a patient older than 1 year is a fingerstick. For detailed instructions, see How to Collect Dried Blood Spot Samples.

2. At least 2 spots should be complete (ie, unpunched).

3. Let blood dry on filter paper at room temperature in a horizontal position for a minimum of 3 hours.

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

5. Do not stack wet specimens.

6. Keep specimen dry.

Specimen Stability Information: Refrigerated (preferred) 60 days/Ambient 7 days/Frozen 60 days

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions

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

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

 

Acceptable:

Specimen Type: Whole Blood

Container/Tube:

Preferred: Lavender top (EDTA)

Acceptable: Yellow top (ACD)

Specimen Volume: 2 mL

Collection Instructions: Send whole blood specimen in original tube. Do not aliquot.

Specimen Stability Information: Refrigerate (preferred) 7 days/Ambient 48 hours


Forms

1. New York Clients-Informed consent is required. Document on the request form or electronic order that a copy is on file. The following documents are available:

-Informed Consent for Genetic Testing (T576)

-Informed Consent for Genetic Testing-Spanish (T826)

2. Biochemical Genetics Patient Information (T602)

3. If not ordering electronically, complete, print, and send a Biochemical Genetics Test Request (T798) with the specimen.

Useful For

Supporting the biochemical diagnosis of mucopolysaccharidoses types IIIA, IIIB, IIIC

 

This test is not useful for carrier detection.

Reflex Tests

Test ID Reporting Name Available Separately Always Performed
MPSBS Mucopolysaccharidosis, BS Yes No

Testing Algorithm

If results are normal, testing is complete.

 

If results indicate mucopolysaccharidoses IIIA, IIIB, or IIIC, quantitation of heparan sulfate, dermatan sulfate and keratan sulfate may be performed at an additional charge.

Method Name

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

Reporting Name

MPS III (Three) Panel, BS

Specimen Type

Whole blood

Specimen Minimum Volume

Blood spots: 1
Whole blood: 0.5 mL

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Varies

Reference Values

HEPARAN-N-SULFATASE:

>0.06 nmol/mL/hour

 

N-ACETYL-ALPHA-D-GLUCOSAMINIDASE:

>0.70 nmol/mL/hour

 

HEPARAN-ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE:

>0.50 nmol/mL/hour

 

An interpretive report will be provided.

Day(s) Performed

Thursday

Report Available

8 to 15 days

Performing Laboratory

Mayo Clinic Laboratories in Rochester

Test Classification

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

CPT Code Information

82657

83864 (if appropriate)

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MPS3B MPS III (Three) Panel, BS 104112-8

 

Result ID Test Result Name Result LOINC Value
BG751 Reason for Referral 42349-1
618419 Heparan-N-sulfatase 104113-6
618420 N-acetyl-alpha-D-glucosaminidase 104114-4
618421 Heparan-alpha-glucosaminide N-acetyltransferase 104115-1
618422 Interpretation 59462-2
618418 Reviewed By 18771-6