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Test Code MPSBS Mucopolysaccharidosis, Blood Spot

Useful For

Supporting the biochemical diagnosis of mucopolysaccharidoses types I, II, III, IV, or VI

 

Quantification of heparan sulfate, dermatan sulfate, and keratan sulfate in dried blood spot specimens

Method Name

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

Reporting Name

Mucopolysaccharidosis, BS

Specimen Type

Whole blood


Specimen Required


Patient Preparation: Do not administer low-molecular-weight heparin prior to collection

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

Collection Container:

Preferred: Card-Blood Spot Collection (Filter Paper)

Acceptable: Whatman Protein Saver 903 paper, PerkinElmer 226 (formerly Ahlstrom 226) filter paper, Munktell filter paper, local newborn screening card, postmortem screening card, or blood collected in tubes containing ACD or EDTA and dried on filter paper

Specimen Volume: 2 Dried blood spots

Collection Instructions

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

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

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

4. Do not stack wet specimens.

5. Keep specimen dry.

Additional Information:

1. For collection instructions, see Blood Spot Collection Instructions in Special Instructions.

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

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


Specimen Minimum Volume

See Specimen Required

Specimen Stability Information

Specimen Type Temperature Time Special Container
Whole blood Ambient (preferred) 100 days FILTER PAPER
  Frozen  100 days FILTER PAPER
  Refrigerated  100 days FILTER PAPER

Reference Values

DERMATAN SULFATE (DS)

Newborn-≤2 weeks: ≤200 nmol/L

>2 weeks: ≤130 nmol/L

 

HEPARAN SULFATE (HS)

Newborn-≤2 weeks: ≤96 nmol/L

>2 weeks: ≤95 nmol/L

 

TOTAL KERATAN SULFATE (KS)

≤5 years: ≤1,900 nmol/L

6-10 years: ≤1,750 nmol/L

11-15 years: ≤1,500 nmol/L

>15 years: ≤750 nmol/L

Day(s) Performed

Monday, Wednesday, Friday

Report Available

2 to 5 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. This test has not been cleared or approved by the US Food and Drug Administration.

CPT Code Information

83864

LOINC Code Information

Test ID Test Order Name Order LOINC Value
MPSBS Mucopolysaccharidosis, BS 94586-5

 

Result ID Test Result Name Result LOINC Value
43695 Interpretation (MPSBS) 59462-2
43693 Dermatan Sulfate 90233-8
43694 Heparan Sulfate 90235-3
BA2869 Total Keratan Sulfate 90236-1
43696 Reviewed By 18771-6

Testing Algorithm

See Newborn Screen Follow-up for Mucopolysaccharidosis Type I in Special Instructions.

 

For more information, see Newborn Screening Act Sheet Mucopolysaccharidosis Type I: Decreased Alpha-L-Iduronidase in Special Instructions.