Additional Testing Requirements

If peroxisomal biogenesis disorders (Zellweger syndrome spectrum) are suspected, also order very long chain fatty acids (POX / Fatty Acid Profile, Peroxisomal [C22-C26], Serum; or POXP / Fatty Acid Profile, Peroxisomal [C22-C26], Plasma), bile acids (BAIPD / Bile Acids for Peroxisomal Disorders, Serum), and pipecolic acid (PIPU / Pipecolic Acid, Random, Urine).

If rhizomelic chondrodysplasia punctata (RCDP) is suspected, also order very long chain fatty acids (POX / Fatty Acid Profile, Peroxisomal [C22-C26], Serum), which includes phytanic and pristanic acid analysis.

Necessary Information

1. Reason for testing is required

2. Date of blood transfusion, if performed.

3. Biochemical Genetics Patient Information (T602) is recommended, but not required, to be filled out and sent with the specimen to aid in the interpretation of test results.

Specimen Required

Submit only 1 of the following specimens:

Preferred:

Patient Preparation: Specimen must be collected either prior to or 6 weeks after a blood transfusion.

Specimen Type: Blood spot

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

Container/Tube:

Preferred: Blood spot collection card

Acceptable: Local newborn screening card, PerkinElmer 226 filter paper, Munktell filter paper, Whatman Protein Saver 903 paper, or blood collected in tubes containing ACD, EDTA, or heparin spotted 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. Let blood dry on the 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.

Specimen Stability Information: Ambient (preferred) 90 days/Refrigerated 90days/Frozen 90 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: Green top (sodium or lithium heparin), yellow top (ACD solution A or B)

Specimen Volume: 2 mL

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

Specimen Stability Information: Refrigerate (preferred) 14 days/Ambient 11 days