Sorted By Test Name - Mayo Medical Laboratories

9814
9815
ABO_M
9012
FGHBP
91958
and c.403_404+2delAAGT. These mutations account for about one third of the mutant alleles described in
the Northern European Caucasian population and about 15% in the Asian population.
Useful For: Carrier testing of individuals with a family history of primary hyperoxaluria type 2
Diagnostic confirmation of primary hyperoxaluria type 2 when familial mutations in the GRHPR gene
have been previously identified Prenatal testing when 2 familial mutations in the GRHPR gene have been
previously identified in an affected family member
Interpretation: All detected alterations will be evaluated according to American College of Medical
Genetics and Genomics (ACMG) recommendations.(1) Variants will be classified based on known,
predicted, or possible pathogenicity, and reported with interpretive comments detailing their potential or
known significance.
Reference Values:
An interpretive report will be provided.
Clinical References: 1. Richards CS, Bale S, Bellissimo DB, et al: ACMG recommendations for
standards of interpretation and reporting of sequence variations: revisions 2007. Genet Med
2008;10(4):294-300 2. Primary Hyperoxaluria Type 2-GeneReviews-NCBI Bookshelf
http://www.ncbi.nlm.nih.gov/books/NBK2692/, accessed 8-7-2012 3. Rumsby G, Williams E,
Coulter-Mackie M: Evaluation of mutation screening as a first line test for the diagnosis of the primary
hyperoxalurias. Kidney Int 2004;66(3):959-963 4. Cregeen DP, Williams EL, Hulton S, Rumsby G:
Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying
primary hyperoxaluria type 2. Hum Mutat 2003;22(6):497 5. Communique April 2007: Laboratory and
Molecular Diagnosis of Primary Hyperoxaluria and Oxalosis
Grimelius' Silver Stain
Reference Values:
The laboratory will provide a pathology consultation and stained slide.
Grocott's Methenamine Silver Stain for Fungi
Reference Values:
The laboratory will provide a pathology consultation and stained slide.
Grouping and Rh, Blood
Clinical Information: The ABO and Rh typing indicates the presence of specific red cell antigens of
2 of the various blood group systems.
Useful For: Selecting compatible blood products for transfusion therapy
Reference Values:
Not applicable
Growth Hormone Binding Protein (GHBP)
Reference Values:
Age Range
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0-1y