Reference Interval:
By report
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| Interpretive Data: |
Background Information for Galactosemia, (GALT) Enzyme Activity & 9 Mutations:
Characteristics: Affected infants present at 3-14 days old with poor feeding, vomiting, diarrhea, jaundice, lethargy progressing to coma, and abdominal distension with hepatomegaly usually followed by progressive liver failure. Patients with galactosemia are also at increased risk for E. coli or other Gramnegative neonatal sepsis. Diagnosis is made by measuring GALT enzyme activity in red blood cells.
Incidence: Approximately 1 in 30,000 to 60,000 of classic galactosemia in Caucasian, varies in other populations.
Inheritance: Autosomal recessive
Penetrance: 100% for severe GALT mutations
Cause: Mutations in the GALT gene.
Mutations Detected: Seven GALT gene mutations (Q188R, S135L, K285N, T138M, L195P, Y209C, and IVS2-2 A>G) and two variants (N314D and L218L).
Clinical Sensitivity DNA: Approaches 80% in Caucasians but reduced in other ethnic groups.
Methodology DNA: Polymerase chain reaction followed by single nucleotide extension (SNE) and capillary electrophoresis.
Analytical Sensitivity DNA: 99% for mutations listed.
Limitations DNA: Other mutations will not be detected.
Methodology Enzymatic: Spectrophotometric quantitation of enzyme activity in red blood cells.
This test is performed pursuant to an agreement with Roche Molecular Systems, Inc.
Counseling and informed consent are recommended for genetic testing. Consent forms are available online at www.aruplab.com.
Refer to Statement C under Testing Information at http://www.aruplab.com.
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| CPT Code(s): |
82775 Enzymatic; 83891 Isolation; 83898 Amplification; 83914 x9 Mutation identification; 83909 Capillary Electrophoresis; 83912 Interpretation and report - Additional CPT code modifiers may be required for procedures performed to test for oncologic or inherited disorders.
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