BAYLOR DNA DIAGNOSTIC
LABORATORY
BAYLOR COLLEGE OF MEDICINE
One Baylor Plaza - T536
Houston, Texas 77030 |
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: |
| DRL#: |
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. |
______________________________
Arthur L. Beaudet, M.D.
MEDICAL DIRECTOR |
______________________________
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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