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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

Genetics Test Information

This test is used as a second-tier newborn screen for mucopolysaccharidosis (MPS) types I and II and to aid in the diagnosis and monitoring of patients with MPS types I, II, III, IV, and VI.

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: Blood Spot Collection Card

Acceptable: Whatman Protein Saver 903 paper, PerkinElmer 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 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. 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 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.

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)


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

Reject Due To

Blood spot specimen that shows serum rings or has multiple layers/applications Reject
Insufficient specimen Reject

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

3 to 5 days

Specimen Retention Time

6 months

Performing Laboratory

Mayo Clinic Laboratories in Rochester

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

Forms

1. Biochemical Genetics Patient Information (T602)

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

Testing Algorithm

If the patient has abnormal newborn screening result for mucopolysaccharidosis type I, immediate action should be taken. Refer to the appropriate American College of Medical Genetics and Genomics Newborn Screening ACT Sheet.(1)

 

For more information, see the following:

-Newborn Screen Follow-up for Mucopolysaccharidosis Type I.

-Newborn Screening Follow up for Mucopolysaccharidosis type II