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Aldolase A deficiency
Research Genetic test
Help
offered by
HFI Laboratory at Boston University
GTR Test Accession: Help GTR000005914.3
INHERITED DISEASEHEMATOLOGYMETABOLIC DISEASE ... View more
Last updated in GTR: 2016-05-05
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Last annual review date for the lab: 2023-07-14 LinkOut
At a Glance
Conditions (3): Help
HNSHA due to aldolase A deficiency; Anemia, nonspherocytic hemolytic, associated with abnormality of red cell membrane; Lethal hemolytic anemia-genital anomalies syndrome
Enzymes (1): Help
Fructose-bisphosphate aldolase A
Study description: Help
Aldolase A deficiency results from mutations that destabilize the quaternary …
Recruitment status: Help
Currently closed
Eligibility criteria: Help
Not provided
Methods (1): Help
Biochemical Genetics - Enzyme assay: Enzyme activity
Study Description
Name: Help
Aldolase A deficiency
Test purpose: Help
Contribute to generalizable knowledge
Description: Help
Aldolase A deficiency results from mutations that destabilize the quaternary structure of the enzyme. The laboratory is studying the role of this structure using these mutant enzymes. Laboratory tests the activity and thermostability of blood aldolase A relative to normal control and lactate dehydrogenase. For testing, blood from both the … View more
View citations (1)
  • Yao DC, Tolan DR, Murray MF, Harris DJ, Darras BT, Geva A, Neufeld EJ. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). Blood. 2004;103(6):2401-3. doi:10.1182/blood-2003-09-3160. Epub 2003 Nov 13. PMID: 14615364.
Offered by: Help
HFI Laboratory at Boston University
Person responsible for the study: Help
Dean Tolan, PhD, Lab Director
Study contact: Help
Dean Tolan, PhD, Lab Director
Research contact policy: Help
Pre-test email/phone consultation regarding genetic test utilization and decision making is provided to patients/families.
Recommended fields not provided:
Protocol number
Participation
Recruitment status: Help
Currently closed
Consent form: Help
Not provided
Recommended fields not provided:
Eligibility criteria
Conditions Help
Total conditions: 3
Condition/Phenotype Identifier
Test Targets
Enzymes Help
Total enzymes: 1
Enzyme Associated Condition
Methodology
Total methods: 1
Method Category Help
Test method Help
Instrument *
Enzyme assay
Enzyme activity
* Instrument: Not provided
Technical Information
Recommended fields not provided:
Test Confirmation
Additional Information

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