National Referral Laboratory

Testing varies depending on age of presentation and can include:

• Very long chain fatty acids (plasma) ($)
• Phytanic acid (plasma) ($)
• Bile acid intermediates (plasma) ($)
• Plasmalogens (erythrocytes) ($)
• Dihydroxyacetonephosphate acyl transferase (DHAP-AT) ($)
• Dihydroxyacetonephosphate alkyl synthase (DHAP-S) ($)
• Phytanic acid oxidation ($)
• Cellular catalase distribution ($)

EDTA blood (5-10mL) or plasma (2-5mL) for VLCFA, phytanic acid and bile acid intermediates.

VLCFA can also be performed on cultured cells (skin fibroblasts, chorionic villus or amniotic cells), tissue (fresh, frozen or fixed) or skin biopsy.

EDTA blood (5-10mL) or washed erythrocytes for plasmalogens.

Cultured cells or skin biopsy for DHAP-AT and DHAP-S studies.

(prep $)

• Screen for 3 'common' mutations in the PEX1 gene ($ - 2 PCR)
• Testing for known family mutation(s) ($)

Prenatal testing is available and can be performed by:

• direct VLCFA analysis of CV tissue (TAT 1 week)
• DHAP-AT or DHAP-S analysis of cultured CV cells or amniocytes (TAT 2-3 weeks)
• mutation testing of DNA from CVS, whole amniotic fluid or cultured cells (TAT 1 week)
• VLCFA analysis of cultured CV cells or amniocytes (TAT 2-3 weeks)

Further information on prenatal testing can be obtained on the Prenatal diagnoses page.

Cultured cell analysis requires dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes.

For mutation testing, we prefer to receive any of the above samples. However, testing can also be performed on DNA extracted prior to forwarding to the National Referral Laboratory.

Biochemical testing:

• Very long chain fatty acids ($)

• ABCD1 gene mutation search ($ - standard)
• Testing for known family mutation ($ - 1 PCR)

EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), plasma, tissue (fresh, frozen or fixed), skin biopsy for VLCFA analysis.

DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.

Biochemical testing:

• Very long chain fatty acids ($)

• ABCD1 gene mutation search ($ - standard)
• Testing for known family mutation ($ - 1 PCR)

EDTA blood (10mL), cultured cells (skin fibroblasts, chorionic villus or amniotic cells), plasma, tissue (fresh, frozen or fixed), skin biopsy for VLCFA analysis.

DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.

Biochemical testing:

• Phytanic acid ($)
• Phytanic acid oxidation ($)

Plasma/serum, tissue (fresh, frozen or fixed) or EDTA blood (10mL) for phytanic acid analysis.

Cultured cells or skin biopsy for phytanic acid oxidation studies.

• Phytanic acid (plasma) ($)
• Plasmalogens (erythrocytes) ($)
• Dihydroxyacetonephosphate alkyl synthase (DHAP-S) ($)
• Phytanic acid oxidation ($)
• Screen for 3 common mutations in the PEX7 gene ($ - 2 PCR)
• PEX7 gene mutation search ($ - standard)
• Testing for known family mutation(s) ($)

EDTA blood (5-10mL) or plasma (2-5mL) for phytanic acid analysis.

EDTA blood (5-10mL) or washed erythrocytes for plasmalogens.

Cultured cells or skin biopsy for DHAP-S or phytanic acid oxidation studies.

DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.

• Very long chain fatty acids (plasma) ($)
• Phytanic acid (plasma) ($)
• Bile acid intermediates (plasma) ($)
• Plasmalogens (erythrocytes) ($) or
• Dihydroxyacetonephosphate acyl transferase (DHAP-AT) ($) and
• Dihydroxyacetonephosphate alkyl synthase (DHAP-S) ($)
• Screen for two 'common' Lebanese mutations in the HSD17B4 gene ($ - 2 PCR)
• HSD17B4 gene mutation search ($ - standard)
• Testing for known family mutation(s) ($)

EDTA blood (5-10mL) or plasma (2-5mL) for VLCFA, phytanic acid and bile acid intermediates.

VLCFA can also be performed on cultured cells (skin fibroblasts, chorionic villus or amniotic cells), plasma, tissue (fresh, frozen or fixed) or skin biopsy.

EDTA blood (5-10mL) or washed erythrocytes for plasmalogens.

Cultured cells or skin biopsy for DHAP-AT, DHAP-S, phytanic acid oxidation or catalase studies.

DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.

Diagnosis obtained by a combination of:

• Very long chain fatty acids (plasma) ($)
• Phytanic acid + pristanic acid (plasma) ($)
• Bile acid intermediates (plasma) ($)

Require 5-10mL of EDTA blood or 3-5mL of plasma for full analysis.

• This testing is no longer performed in our laboratory. Please contact laboratory for alternative testing location.

• Saturated VLCFA ($)
• acyl CoA oxidase deficiency
• thiolase deficiency