Cardiolipin analysis (Barth Syndrome screen)
Clinical Background:
Recommend routine cardiolipin testing in all young males with dilated cardiomyopathy (DCM).
Cardiolipin testing should also be considered in male babies/boys with left ventricular noncompaction (LV...
Recommend routine cardiolipin testing in all young males with dilated cardiomyopathy (DCM).
Cardiolipin testing should also be considered in male babies/boys with left ventricular noncompaction (LVNC), unexplained neutropenia (especially with poor growth, developmental delay or weak muscles and easy fatigue) and in families with a male pattern of hypertrophic cardiomyopathy (HCM) but where no genetic cause can be found and other features suggestive of Barth Syndrome are present.
Test Details
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Discipline:
Biochemistry
Biochemistry
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Specimen Container Adult:
EDTA whole blood
EDTA whole blood
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Specimen Container Paediatric:
EDTA whole blood
EDTA whole blood
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Minimum Volume Adult:
3 mL
3 mL
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Minimum Volume Paediatric:
3 mL
3 mL
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Special Requirement:
Samples must arrive within 24 hours of collection, therefore only collect Monday to Thursday.
Samples must arrive within 24 hours of collection, therefore only collect Monday to Thursday.
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Sample Stability:
Store sample at 4oC
Store sample at 4oC
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Transport Requirements:
First class post
First class post
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Other Info:
Cardiolipin analysis is temporarily unavailable in the UK. The laboratory at Bristol Royal Infirmary continues however to facilitate testing for Barth syndrome by forwarding samples to the Academi...
Read MoreCardiolipin analysis is temporarily unavailable in the UK. The laboratory at Bristol Royal Infirmary continues however to facilitate testing for Barth syndrome by forwarding samples to the Academic Medical Centre (AMC) in Amsterdam for analysis. Analysis of samples sent via the Bristol laboratory to the AMC are free of charge.
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Routine Contact Name:
Duty Biochemist
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Routine Telephone:
Freeman: 0191 244 8889
RVI: 0191 282 9719
Freeman: 0191 244 8889
RVI: 0191 282 9719
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Routine Email:
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Specialist Test:
Yes
Yes
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Specialist Contact Name:
Metabolic Clinical Scientist
Metabolic Clinical Scientist
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Specialist Telephone:
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
0191 282 9685 (Consultant Clinical Scientist)
0191 282 0334 (Metabolic Laboratory)
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Specialist Email: