BAYLOR DNA DIAGNOSTIC LABORATORY
BAYLOR COLLEGE OF MEDICINE
One Baylor Plaza - T536
Houston, Texas 77030
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Tel: (800) 226-3624; (713) 798-6536 |
Fax: (713) 798-6584 |
This test was developed and its performance characteristics determined by The Baylor DNA Diagnostic Laboratory. It has not been cleared or approved by the U.S. Food and Drug Administration. Since FDA approval is not required for clinical use of this test, validation was done as required by the Clinical Laboratory Improvement Act of 1988 (CLIA). The Baylor DNA Diagnostic Laboratory is licensed and/or accredited under CLIA and the College of American Pathologists (CAP).
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| Physician: |
Counselor: |
| Phone: |
Phone: |
| Fax: |
Fax: |
PATIENT NAME: |
Date of Birth: |
Date Collected: |
| LOG#: |
Date Received: |
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Type of Sample: |
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Indication for Study: Symptomatic
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| Hereditary Hemochromatosis Molecular Analysis |
Mutation(s) Detected: |
Interpretation: |
C282Y HOMOZYGOTE |
SEE ATTACHED PAGE |
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METHODOLOGY:
These studies were performed using gene amplification (PCR) and allele specific oligonucleotide hybridization (ASO) methodologies. The methods are designed to study the G-to-A transition mutation at nucleotide position 845 in the HLA-H gene. This mutation (C282Y) results in the substitution of tyrosine for cysteine at amino acid position 282 in the protein. The majority of patients with Hereditary Hemochromatosis are homozygous for the C282Y mutation. A second allele (187C to G transversion or H63D) is also analyzed in our test.
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INTERPRETATION:
DNA extracted from the sample from this individual has been analyzed by the methods described above. These data identify two copies of the C282Y mutation in the HLA-H genes of this individual. 1-4 It is estimated that the C282Y mutation accounts for 85-93% of mutations in hereditary hemochromatosis chromosomes. These data confirm the diagnosis of or the predisposition for hereditary hemochromatosis for this individual.
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NOTE: Evaluation of this individual was performed using mutation analysis. Possible diagnostic errors include sample mix-ups, erroneous paternity identification, and genotyping errors. Genotyping errors can result from trace contamination of PCR reactions, from maternal contamination of fetal samples, from rare genetic variants which interfere with analysis and from other sources. Families being studied should understand that rare diagnostic errors will occur for these reasons. Risk analysis based on one's DNA data could change if molecular data from other family members were available. If this report contains information on family members in addition to the proband, we ask that you maintain the confidentiality of this data. If prenatal diagnostic studies have been performed, we request the followup information about the pregnancy outcome be sent to us.
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Arthur L. Beaudet, M.D.
MEDICAL DIRECTOR
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Benjamin B. Roa, Ph.D.
ACTING LABORATORY DIRECTOR
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1. Feder et al. 1996. Nat. Genet. 13:399-408.
2. Carella et al. 1997. Am. J. Hum. Genet. 60:828-832.
3. Jazwinska et al. 1996. Nat. Genet. 14:249-251.
4. Jovanoll et al. 1996. Nat. Genet. 14:251-252.
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