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Displaying results 1 - 10 of about 575

  • Cystinosis

    Description

    Cystinosis (MIM 219800, 219900 and 219750) is a rare autosomal recessive disorder affecting 1/175,000 individuals. The condition is caused by the failure to transport the amino acid cysteine out of the lysosomes. Cystine (a dimer of two cysteine molecules) accumulates forming crystals which causes cell and tissue destruction in all systems of the body. Excess cystine can be detected by cystine binding protein assays which can be used to confirm a clinical diagnosis. Three forms of cystinosis have been defined by age of onset and severity of symptoms. The most common form is infantile nephropathic cystinosis (95% of cases) that has an age of onset of 6-12 months. Features include renal proximal tubular dysfunction (renal Fanconi syndrome), without treatment affected children suffer worsening growth retardation and develop end stage renal failure by ~10 years. The juvenile form of cystinosis occurs in around 4-5% of affected individuals. Age of onset is between 12-15 years and individuals usually present with p 

    Also known as

    Infantile nephropathic cystinosis 

    Laboratory service

    Genetics 

    Sample requirements

    1ml EDTA neonates, 5ml EDTA adults 

    Turnaround time

    Common mutation - 10 days; gene screen - 40 days 

  • Osteopetrosis

    Description

    Autosomal recessive malignant osteopetrosis (MIM 259700) is a rare congenital disorder of bone resorption affecting 1/200,000 individuals. The condition is caused by failure of osteoclasts to resorb immature bone. This results in abnormal bone marrow cavity formation and bone marrow failure. Clinical features of osteopetrosis include fractures (especially of the long bones), visual impairment, nerve compression resulting in headaches, blindness and deafness, haematological difficulties, unusual dentition, frequent infections, failure to thrive, and growth retardation. It is diagnosed immediately/shortly after birth and death can occur by 2 years due to severe anaemia, bleeding and /or infection. Osteopetrosis is generally diagnosed through skeletal X-rays. Bones appear unusually dense on X-rays with a chalky white appearance. Bone density tests and bone biopsies can also confirm a diagnosis. 

    Also known as

    Autosomal recessive malignant osteopetrosis 

    Laboratory service

    Genetics 

    Sample requirements

    1ml EDTA neonates, 5ml EDTA adults 

    Turnaround time

    40 days 

  • NBT

    Description

    NBT 

    Also known as

    Oxidative burst assay 

    Laboratory service

    Immunology 

    Sample requirements

    1 ml EDTA (to be received in Immunology lab by 2pm on day of collection) 

    Turnaround time

    3 days 

  • Histopathology

    Description

    All aspects of paediatric pathology including neuropathogy, perinatal pathology and post mortem histology. 

    Also known as

     

    Laboratory service

    Histopathology 

    Sample requirements

    Wet tissue, Paraffin blocks or slides 

    Turnaround time

    On request 

  • Cytokines

    Description

    Cytokines 

    Also known as

     

    Laboratory service

    Immunology 

    Sample requirements

    discuss with laboratory 

    Turnaround time

     

  • Fabry disease

    Description

    Fabry disease (MIM 301500) is an X-linked recessive lysosomal storage disorder affecting ~1/40000 males. It is due to a deficiency of the lysosomal hydrolase, alpha-galactosidase A. Males with classical Fabry disease have no residual enzyme activity, whereas atypical patients, usually with symptoms confined to the heart (cardiac variant), have varying degrees of residual activity. These enzyme activity levels are measured and allow the clinical diagnosis to be confirmed. The symptoms of Fabry disease begin during childhood or teenage years and include angiokeratoma, acroparesthesia and ocular features. Cerebrovascular, cardiovascular and renal malfunction may develop later. Clinical manifestation in carrier females can range from being asymptomatic to being as severely affected as affected males. Enzyme replacement therapy for Fabry disease is now well established and in wide use. The gene encoding alpha-galactosidase A (GLA) (Xq22.1) consists of 7 exons and family specific mutations are found throughout the  

    Also known as

    Anderson-Fabry disease; alpha-galactosidase A deficiency; GLA deficiency 

    Laboratory service

    Genetics 

    Sample requirements

    1ml EDTA neonates, 5ml EDTA adults 

    Turnaround time

    Deletion screen - 20 days; gene screen - 40 days 

  • Krabbe disease

    Description

    Krabbe disease (MIM #245200) is an autosomal recessive inborn error of metabolism caused by deficiency of the enzyme galactosylceramidase (galactocerebrosidase). Galactosylceramidase (EC 3.2.1.46) is a lysosomal enzyme involved in the catabolism of galactosylceramide, a major lipid in myelin, kidney, and epithelial cells of the small intestine and colon. Enzyme deficiency results in the build-up of undigested fats affecting growth of the nerve s protective myelin sheath and causes severe degeneration of mental and motor skills. The disease may be diagnosed by its characteristic grouping of certain cells (multinucleated globoid cells), nerve demyelination and degeneration, and destruction of brain cells. Special stains for myelin (e.g. luxol fast blue) may be used to aid diagnosis. Definitive testing is by direct enzyme analysis. Infants with Krabbe disease are normal at birth. Symptoms begin between the ages of 3 and 6 months with irritability, inexplicable crying, fevers, limb stiffness, seizures, feeding  

    Also known as

    Globoid cell leukodystrophy, galactocerebrosidase deficiency, GALC deficiency 

    Laboratory service

    Genetics 

    Sample requirements

    1ml EDTA neonates, 5ml EDTA adults 

    Turnaround time

    10 days 

  • TLX3 FISH

    Description

    A locus specific dual-colour breakapart probe set for the detection of TLX3 rearrangements, but will not identify the partner gene involved. This probe set may also be used in other disease types/referral reasons for eluciation of rearrangements or locus enumeration. 

    Also known as

     

    Laboratory service

    Paediatric Malignancy Unit 

    Sample requirements

    Please refer to FISH (Tissue Fresh/frozen), FISH (FFPE) or FISH (Bone marrow/peripheral blood) as appropriate. 

    Turnaround time

    Urgent: 3 days (FISH only) As part of full karyotype anaysis; see 'Karyotype' turnaround times. 

  • Glycogen

    Description

     

    Also known as

    Glycogen 

    Laboratory service

    Chemical Pathology 

    Sample requirements

    5-8 ml Lithium Heparin whole blood received at ambient temperature within 24 hours of phlebotomy, can also be done on liver, muscle and cultured fibroblasts 

    Turnaround time

    60 days 

  • Copper

    Description

    Copper 

    Also known as

    CU, Trace Metals 

    Laboratory service

    Chemical Pathology 

    Sample requirements

    0.4 ml lithium heparin plasma, separate plasma ASAP. Send frozen 

    Turnaround time

    2 - 3 weeks 

Displaying results 1 - 10 of about 575

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