LabPLUS is part of Auckland District Health Board
and provides medical laboratory testing
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NATIONAL TESTING CENTRE |
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Newborn Baby Metabolic Screening | |
Biochemical Genetics | |
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Maternal Serum Screening | |
Clinical Metabolic Service | |
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Key Contacts: Dr Dianne Webster Director Mary Stuart Team Leader Claire De Luen Technical Specialist Fax Number: +64 9 307 4936 |
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Newborn baby metabolic screening | |||
| Key Contacts: Dr Dianne Webster Director Mary Stuart Team Leader |
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For information about the Newborn Metabolic Screening Programme please refer to the following website: http://www.moh.govt.nz/newbornscreening
Any further questions
can be emailed to
ntc@adhb.govt.nz |
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Biochemical Genetics | |||
| Key Contacts:
Claire de Luen Technical Specialist Dr Callum Wilson Metabolic Physician Christine McMahon Clinical Nurse Specialist Rhonda Akroyd Dietitian |
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| This discipline covers the
diagnosis and treatment of inborn errors of metabolism or inherited
metabolic diseases. Generally due to enzyme deficiencies, these
conditions can present in many different ways at any age, although they
are most common in infancy and childhood. There are over 400 of these
disorders. Diagnosis involves testing blood (cells or plasma), urine or cultured cells for either metabolites indicative of the disorders or the possibly defective enzymes. The most common biochemical genetics tests are: |
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For intermediary metabolite disorders |
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Plasma aminoacids (aminoacid analyser) for aminoacidopathies eg PKU, cystinuria etc |
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Urine organic acids (GC-MS) for disorders like propionic acidemia, methylmalonic acidemia |
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Blood acylcarnitines (tandem MS) for fatty acid oxidation disorders eg MCAD |
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For storage disorders |
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| (a) | Urine electrophoresis for mucopolysaccharidoses eg Morquio syndrome | |||
| The clinical metabolic service cares for patients with diagnosed metabolic disease. | ||||
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Maternal Serum Screening | |||
| Key Contacts: | ||||
| This is a screen for Neural
Tube Defects and Chromosome abnormalities. A Maternal Serum Screen is
achieved by performing a blood test measuring AFP, free βHCG and unconjugated estriol. A computer algorithm
compares the levels to those found in the affected and unaffected
pregnancies and adds the maternal age risk to estimate the overall risk.
A screen for chromosome abnormalities may be done after 14 completed
weeks. A screen for both chromosome abnormalities and neural tube
defects after 15 completed weeks. Screening for NTD's and chromosome abnormalities has been part of routine medical care in the United Kingdom, Europe, USA, Australia and Canada for some years now. The incidence of NTD's has been reduced by almost 90%. Chromosome Abnormality screening is more recent and incidence reduction figures are not yet available but screening can detect up to 92% of cases of Down syndrome and various other abnormalities. At present the National Screening Unit is paying for all 2nd trimester screening. It is recommended this is combined with a Nuchal Translucency scan measurement to give an overall risk. Also available at patient's expense is 1st trimester screening combined with NT which may also be integrated with 2nd trimester screening. When fully integrated this screen may detect 92% of DS cases. This 1st trimester and fully integrated screen is sent to Australia for analysis. The cost is $160 for 1st trimester and $205 for 1st and 2nd trimester integrated. We provide request forms and patient information sheets with backup telephone explanations whenever required to doctors and midwives wishing to offer this service to their patients. Second trimester request forms and information are also available on the MOH NSU website. |
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