Women's and Children's Hospital, Adelaide
National Referral Laboratory

National Referral Laboratory

Tests, Specimens & Diagnostic Record

Data is current to 31st December, 2008

Alphabetical disease index

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z


NEUROLIPIDOSES

Neurolipidosis Screen (or White Cell/Lysosomal Enzymes): Our laboratory offers a first-tier screen for lysosomal storage disorders using 15 lysosomal enzymes (cost). The screen requires 10mL EDTA blood or the corresponding leucocytes but can also be performed on cultured cells (preparation costs). The enzyme assays included are:

  • b-galactosidase (GM1-gangliosidosis, galactosialidosis)
  • b-hexosaminidase A (Tay-Sachs disease)
  • total b-hexosaminidase (Sandhoff disease)
  • arylsulphatase A (metachromatic leucodystrophy)
  • b-glucocerebrosidase (Gaucher disease)
  • b-galactocerebrosidase (Krabbe disease)
  • sphingomyelinase (Niemann-Pick disease types A & B)
  • a-fucosidase (Fucosidosis)
  • a-mannosidase (a-Mannosidosis)
  • acid lipase (Wolman's disease, cholesterol ester storage disease)
  • b-glucuronidase (MPS VII)
  • palmitoyl-protein thioesterase 1 (CLN1/infantile NCL)
  • tripeptidyl peptidase I (CLN2/late-infantile NCL)
  • Plasma a-N-acetylgalactosaminidase and a-mannosidase (Mucolipidosis type II [I-cell disease], mucolipidosis type III [pseudo-Hurler polydystrophy] and Schindler's disease)
 

Disorder and tests
(Click on disease to jump to OMIM page or on "$" for test charge)
Specimen requirements
(Click on sample type for specimen collection and shipping details or on "prep $" for sample preparation charges)
Postnatal
diagnoses
Prenatal
diagnoses
GM1-gangliosidosis

Biochemical testing:

  • b-galactosidase ($)
    (also included in neurolipidosis screen)
  • ;
  • GM1-gangliosidosis is also detected in the urine oligosaccharide screen.

Molecular testing:

  • Not available.
Prenatal testing: ($)

Prenatal testing is available and can be performed by:

  • direct analysis of b-galactosidase activity in CV tissue (TAT 1 week);
  • analysis of b-galactosidase activity in cultured CV cells or amniocytes (TAT 2-3 weeks).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $).
Urine (10-20mL, sent frozen, freeze-dried or on filter paper).

Prenatal testing:
Direct b-galactosidase analysis requires at least 7mg of dissected CVS (preferably 10mg);
Cultured cell analysis requires dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes.

42
51
(12 aff)
Tests Specimens Postnatal Prenatal
Tay-Sachs disease
(GM2-gangliosidosis, Type 1)

Biochemical testing:

Molecular testing:

  • Screen for 2 pseudo-deficiency alleles in the HEXA gene ($ - 1 PCR)
  • ;
  • Full molecular testing is performed at Royal North Shore Hospital, Sydney
  • .

Carrier testing:

Biochemical carrier testing for Tay-Sachs disease is no longer performed in the National Referral Laboratory. All received samples are referred to Royal North Shore Hospital, Sydney for testing.

Prenatal testing: ($)

Prenatal testing is available and can be performed by:

  • direct analysis of b-hexosaminidase A activity in CV tissue (TAT 1 week);
  • analysis of b-hexosaminidase A activity in cultured CV cells or amniocytes (TAT 2-3 weeks).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $).

Prenatal testing:
Direct b-hexosaminidase A analysis requires at least 7mg of dissected CVS (preferably 10mg).
Cultured cell analysis requires dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes.

48
49
(6 aff)
Tests Specimens Postnatal Prenatal
Sandhoff disease
(GM2-gangliosidosis, Type 2)

Biochemical testing:

Molecular testing:

  • Not available.

Prenatal testing: ($)

Prenatal testing is available and can be performed by:

  • analysis of total b-hexosaminidase activity in cultured CV cells or amniocytes (TAT 2-3 weeks).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $).

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

23
17
(1 aff)
Tests Specimens Postnatal Prenatal
Metachromatic leucodystrophy

Biochemical testing:

  • Arylsulphatase A ($)
    (also included in neurolipidosis screen);
  • Urinary sulphatide ($) can be used for confirmation of the diagnosis or for monitoring of therapy in affected patients.
    This can also be used to diagnose patients with a deficiency of the activator protein for arylsulphatase A (saposin B deficiency). These patients have normal levels of arylsulphatase A activity.

Molecular testing:

  • Screen for 2 common Caucasian mutations ($ - 2 PCR) or 1 common Lebanese mutation ($ - 1 PCR) in the ARSA gene;
  • ARSA 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 total arylsulphatase A 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).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $);
Urine (10-20mL, sent frozen or freeze-dried)

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).

94
53
(12 aff)
Tests Specimens Postnatal Prenatal
Metachromatic leucodystrophy due to Saposin B deficiency

Biochemical testing:

  • Urinary sulphatide ($)
    (this analysis is routinely only performed after obtaining a normal arylsulphatase A enzyme activity level in a patient suspected of metachromatic leucodystrophy).

Molecular testing:

  • PSAP gene mutation search ($ - standard);
  • Testing for known family mutation(s) ($).

Prenatal testing: ($)

Prenatal testing is available and can be only be performed by mutation analysis (TAT 1 week). Therefore, it is essential that both mutations within the family are known.

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.

Biochemical testing:
Urine (10-20mL, sent frozen or freeze-dried).

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.

2
0
Tests Specimens Postnatal Prenatal
Multiple sulphatase deficiency

Biochemical testing:

  • Analysis of various sulphatase activities.
    This may include:
      Arylsulphatase A,
      Iduronate-2-sulphatase,
      N-acetylgalactosamine-4-sulphatase,
      N-acetylgalactosamine-6-sulphatase,
      Sulphamidase,
      Steroid sulphatase and/or
      N-acetyglucosamine-6-sulphatase.

Molecular testing:

  • SUMF1 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 a relevant sulphatase enzyme activity in cultured CV cells or amniocytes (TAT 2-3 weeks).
      Note that it is essential that cultured fibroblasts are obtained from the proband prior to prenatal testing in order to determine the most appropriate sulphatase for analysis.
  • combined mutation and enzyme analysis, where only one mutation within the family is known (TAT 2-3 weeks)

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.

Biochemical testing:
EDTA blood (10mL) or leucocytes are the preferred samples for initial diagnostic testing. Testing of cultured skin fibroblasts, provided as either cultured cells or a skin biopsy, may be important for confirmation of diagnosis and/or preparation for prenatal testing (prep $).

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).

9
3
(0 aff)
Tests Specimens Postnatal Prenatal
X-linked ichthyosis

Biochemical testing:

  • Steroid (DHEAS) sulphatase ($).

Molecular testing:

  • Not available.

Prenatal testing: ($)

Prenatal testing is available and can be performed by:

  • analysis of steroid sulphatase activity in cultured CV cells or amniocytes (TAT 2-3 weeks).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue or skin biopsy (prep $).

Prenatal testing:
Require dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes.

57
5
(1 aff)
Tests Specimens Postnatal Prenatal
Pseudo-arylsulphatase A deficiency

Biochemical testing:

  • Detected by arylsulphatase A analysis ($) in which the activity is below the normal range but not to the extent observed in patients affected by metachromatic leucodystrophy;
  • Urinary sulphatide analysis ($) may be performed to exclude the possibility of metachromatic leudocystrophy.

Molecular testing:

  • Able to screen for the "pseudo-deficiency of arylsulphatase A" allele ($ - 1 PCR) in the ARSA gene.

Prenatal testing: ($)

  • not performed..
Biochemical testing:
Testing routinely performed on EDTA blood (10mL) or leucocytes. Can also be performed on cultured cells (prep $);
Urine (10-20mL, sent frozen or freeze-dried).

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

51
Not
required
Tests Specimens Postnatal Prenatal
Fabry disease

Biochemical testing:

  • a-Galactosidase ($);
  • Trihexosylceramidase (a-galactosidase) ($);
  • In female patients, we recommend that 20mL of urine (random collection, sent frozen) be sent for inclusion in our developmental lipid profiling studies. This may enable us to give a better prediction regarding disease status.

Molecular testing:

Prenatal testing: ($)

Prenatal testing is available and can be performed by:

  • mutation analysis, where the mutation within the family is known (TAT 1 week);
  • analysis of a-galactosidase activity in cultured CV cells or amniocytes (TAT 2-3 weeks).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue, skin biopsy (prep $);
Urine (10-20mL, sent frozen or freeze-dried).

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).

95
6
(1 aff)
Tests Specimens Postnatal Prenatal
Krabbe disease

Biochemical testing:

Molecular testing:

  • Screen for common mutation ($ - 1 PCR) in the GALC gene;
  • Can also test for common polymorphism causing reduced levels of b-galactocerebrosidase activity;
  • Testing for known family mutation(s) ($)
  • .
Prenatal testing: ($)

Prenatal testing is available and can be performed by:

  • direct analysis of b-galactocerebrosidase activity in CV tissue (TAT 1 week);
  • analysis of b-galactocerebrosidase activity in cultured CV cells or amniocytes (TAT 2-3 weeks);
  • mutation analysis, where the mutations within the family are known (TAT 1 week);
  • combined mutation and enzyme analysis, where only one mutation within the family is known (TAT 2-3 weeks).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue or skin biopsy (prep $).

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

Prenatal testing:
Direct b-galactocerebrosidase analysis requires at least 7mg of dissected CVS (preferably 10mg);
Cultured cell analysis requires 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).

47
73
(15 aff)
Tests Specimens Postnatal Prenatal
Niemann-Pick disease
types A and B

Biochemical testing:

Molecular testing:

  • Not available.
Prenatal testing: ($)

Prenatal testing is available and can be performed by:

  • direct analysis of sphingomyelinase activity in CV tissue (TAT 1 week);
  • analysis of sphingomyelinase activity in cultured CV cells or amniocytes (TAT 2-3 weeks).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue or skin biopsy (prep $).

Prenatal testing:
Direct sphinogmyelinase analysis requires at least 7mg of dissected CVS (preferably 10mg);
Cultured cell analysis requires dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes.

34
8
(3 aff)
Tests Specimens Postnatal Prenatal
Niemann-Pick disease
type C

Biochemical testing:

  • Cholesterol esterification ($);
  • Filipin staining ($);
  • Chitotriosidase analysis ($) can be used as an initial screen, prior to cultured cell analysis (serum/plasma chitotriosidase levels are moderately elevated in most patients affected by Niemann-Pick disease type C).

Molecular testing:

  • Screen for common mutation ($ - 1 PCR) in the NPC1 gene;
  • NPC1 gene mutation search ($ - large)
  • ; this will also include mutation search studies of the NPC2 gene in proven cases of Niemann-Pick disease type C where no mutations are found in the NPC1 gene;
  • 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 filipin staining and cholesterol esterification in cultured CV cells or amniocytes (TAT 3 weeks); note that this can not be used in families with a "variant" biochemical presentation of Niemann-Pick disease type C;
  • combined mutation and enzyme analysis, where only one mutation within the family is known (TAT 3 weeks).
Note that it is essential 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.

Biochemical testing:
Cultured cells (skin fibroblasts, chorionic villus or amniotic cells) or skin biopsy (prep $);
For chitotriosidase analysis we require plasma/serum (2-3mL) or EDTA blood (5mL).

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

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

79
20
(0 aff)
Tests Specimens Postnatal Prenatal
Gaucher disease

Biochemical testing:

  • b-glucocerebrosidase ($)
    (also included in neurolipidosis screen);
  • Chitotriosidase analysis ($), which is used for monitoring therapy in patients affected by Gaucher disease.

Molecular testing:

  • Screen for common mutations, including recombinant mutations, ($ - 3 PCR) in the GBA gene;
  • Testing for known family mutation(s) ($)
  • .
Prenatal testing: ($)

Prenatal testing is available and can be performed by:

  • direct analysis of b-glucocerebrosidase activity in CV tissue (TAT 1 week);
  • analysis of b-glucocerebrosidase activity in cultured CV cells or amniocytes (TAT 2-3 weeks);
  • mutation analysis, where the mutations within the family are known (TAT 1 week);
  • combined mutation and enzyme analysis, where only one mutation within the family is known (TAT 2-3 weeks).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue or skin biopsy (prep $);
For chitotriosidase analysis we require plasma/serum (2-3mL) or EDTA blood (5mL).

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

Prenatal testing:
Direct b-glucocerebrosidase analysis requires at least 7mg of dissected CVS (preferably 10mg);
Cultured cell analysis requires 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).

158
35
(7 aff)
Tests Specimens Postnatal Prenatal
Wolman’s disease and Cholesterol ester storage disease

Biochemical testing:

Molecular testing:

  • Not available.
Prenatal testing: ($)

Prenatal testing is available and can be performed by:

  • direct analysis of acid lipase activity in CV tissue (TAT 1 week);
  • analysis of acid lipase activity in cultured CV cells or amniocytes (TAT 2-3 weeks).
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.

Biochemical testing:
EDTA blood (10mL), leucocytes, cultured cells (skin fibroblasts, chorionic villus or amniotic cells), fresh frozen tissue or skin biopsy (prep $).

Prenatal testing:
Direct acid lipase analysis requires at least 10mg of dissected CVS (preferably 15mg);
Cultured cell analysis requires dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes.

14
13
(5 aff)
Tests Specimens Postnatal Prenatal
Farber’s disease

Biochemical testing:

  • Ceramidase ($).

Molecular testing:

  • Not available.

Prenatal testing: ($)

Prenatal testing is feasible and can be performed by:

  • analysis of ceramidase activity in cultured CV cells or amniocytes (TAT 2-3 weeks).
Note that we would require cultured fibroblasts from both the proband and parents prior to any prenatal testing. It is also essential that the laboratory be contacted prior to any prenatal testing.

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

Biochemical testing:
Cultured cells (skin fibroblasts, chorionic villus or amniotic cells) or skin biopsy (prep $).

Prenatal testing:
Require dissected CVS, whole amniotic fluid or cultured CV cells or amniocytes.

2
0

 

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last modified: 01 May 2014