National Referral Laboratory

• Mutation analysis
  DF508, G551D, G542X, R553X, DI506, 621+1G>T, A455E, N1303K, R117H/C, poly-T, 3849+10kbC>T ($)
• Microvillar enzyme analysis for prenatal diagnosis ($)

Cell free amniotic fluid (17-18 weeks gestation)

Biochemical testing

• 7-dehydrocholesterol ($)

Molecular testing:

• Screen for common mutation ($ - 1 PCR) in the DHCR7 gene.
• DHCR7 gene mutation search ($ - standard)
• Testing for known family mutation(s) ($)

Prenatal testing: ($)

Prenatal testing is available and can be performed by:

• mutation analysis, where both mutations within the family are known (TAT 1 week)
• assay of 7-dehydrocholesterol level in cell-free amniotic fluid (TAT 1 week)
• direct assay of 7-dehydrocholesterol level in dissected chorionic villi (TAT 1 week)
• assay of 7-dehydrocholesterol level in cultured CV cells or amniocytes (TAT 3 weeks); note that this is the least preferred option

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

Molecular testing:
DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.
(prep $)

Prenatal testing:
Require dissected CVS, cell-free amniotic fluid, whole amniotic fluid or cultured CV cells or amniocytes
For mutation analysis, we can also receive DNA extracted from any of the above tissues (less preferred option).

Biochemical testing:

• 8(9)-cholestenol ($)

Molecular testing:

• EBP gene mutation search ($ - standard)
• Testing for known family mutation(s) ($)

Prenatal testing:

• None performed to date.

Molecular testing:
DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.
(prep $)

Biochemical testing:

• Transferrin isoform analysis ($). See the Test panels and screens page for further information on this test.
• Phosphomannomutase ($)

• Screen for 2 common mutations ($ - 2 PCR) in the PMM2 gene.
• PMM2 gene mutation search ($ - standard)
• Testing for known family mutation(s) ($)

Prenatal testing: ($)

Prenatal testing is available. We strongly prefer that this be performed by mutation analysis, although this can only be achieved where both mutations within the family are known (TAT 1 week).

It can also be achieved by analysis of phosphomannomutase activity in cultured CV cells or amniocytes (TAT 2-3 weeks). Note that this may have an increased false-positive rate.

It is very important that the laboratory is contacted prior to any prenatal testing as samples from the proband and/or parents are routinely required before any prenatal analysis.

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

Molecular testing:
DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.
(prep $)

Prenatal testing:
Require dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes
For mutation analysis, we can also receive DNA extracted from any of the above tissues (less preferred option).

Biochemical testing:

• Transferrin isoform analysis ($). See the Test panels and screens page for further information on this test.
• Phosphomannose isomerase ($)

Molecular testing:

• Not available.

Prenatal testing: ($)

• None performed to date.

Biochemical testing:

• Transferrin isoform analysis ($). See the Test panels and screens page for further information on this test.
• Enzyme testing is available for CDG Ia and CDG Ib (see above)

Molecular testing:

• Only available for CDG Ia (see above).

Prenatal testing: ($)

• Only available when the specific CDG type has been determined.

Biochemical testing:

• Palmitoyl-protein thioesterase 1 ($)
  (included in neurolipidoses screen)
  

Molecular testing:

• Screen for 2 common mutations ($ - 2 PCR) in the PPT1 gene.
• PPT1 gene mutation search ($ - standard)
• Testing for known family mutation(s) ($)

Prenatal testing: ($)

Prenatal testing is available and can be performed by:

• mutation analysis, where both mutations within the family are known (TAT 1 week)
• analysis of palmitoyl-protein thioesterase 1 activity in cultured CV cells or amniocytes (TAT 2-3 weeks)
• combined mutation and enzyme analysis, where only one mutation within the family is known (TAT 2-3 weeks)

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

Molecular testing:
DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.
(prep $)

Prenatal testing:
Require dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes
For mutation analysis, we can also receive DNA extracted from any of the above tissues (less preferred option).

Biochemical testing:

• Tripeptidyl peptidase I ($)
  (included in neurolipidoses screen)
  

Molecular testing:

• Screen for 3 common mutations ($ - 2 PCR) in the TPP1 gene.
• TPP1 gene mutation search ($ - standard)
• Testing for known family mutation(s) ($)

Prenatal testing: ($)

Prenatal testing is available and can be performed by:

• mutation analysis, where both mutations within the family are known (TAT 1 week)
• analysis of tripeptidyl peptidase I activity in cultured CV cells or amniocytes (TAT 2-3 weeks)
• combined mutation and enzyme analysis, where only one mutation within the family is known (TAT 2-3 weeks)

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

Molecular testing:
DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.
(prep $)

Prenatal testing:
Require dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes
For mutation analysis, we can also receive DNA extracted from any of the above tissues (less preferred option).

Biochemical testing:

• Not available.

Molecular testing:

• Screen for 1 common mutation ($ - 1 PCR) in the CLN3 gene.
• CLN3 gene mutation search ($ - standard)
• Testing for known family mutation(s) ($)

Prenatal testing: ($)

Prenatal testing is available and can only performed by mutation analysis. This requires that both mutations within the family are known (TAT 1 week). Note that it is very important that the laboratory is contacted prior to any prenatal testing as samples from the proband and/or parents are routinely required before any prenatal analysis.

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

Molecular testing:
DNA, EDTA blood or any tissue/source from which DNA can be extracted for mutation studies.
(prep $)

Prenatal testing:
Require dissected CVS, whole amniotic fluid, cultured CV cells or amniocytes, or DNA extracted from any of the above samples.

• Bile alcohols ($)
  (note that cholestanol is not usually assayed)

• Carnitine palmitoyl transferase I ($)

• Carnitine palmitoyl transferase II ($)

• Hypoxanthine-guanine phosphoribosyl transferase (HGPRT'ase) ($)