Labs that offer DNA
testing by PCR for adults/children for hereditary hemochromatosis
Kimball Genetics
webpage: http://www.kimballgenetics.com/tests-hemochrom.html
Denver, Colorado
Requirements: Do not need doctor's
order/results reported to doctor and then doctor reports to patient.
[Will test any age,
including children.]
Cost: $125.00 for
first test kit, $110.00 for each additional test kit in the family
Tests for C282Y and
H63D mutations.
Results 24 hours after
receipt of the sample, if received on a business day.
Sample: Blood or cheek
brush test kit that can be used at home by the patient, no doctor’s visit
needed.
Ordering instructions:
Patient or doctor may contact Kimball Genetics at:
1-800-320-1807 In
Denver: 303-320-1807
Email: info@kimballgenetics.com
Contact person:
Annette Taylor, PhD
OR
Michigan
State University[MSU]
webpage: http://www.phd.msu.edu/hh/hh/html
Lansing, Michigan
Requirements: Do not
need doctor's order/results reported to doctor & patient at same time
[will NOT test children under 14 without a doctors order]
Cost: $130.00
Tests for 3 mutations,
C282Y, H63D, & the S65C.
Results in 3-4 weeks
Sample: Blood or cheek
brush test kit that can be used at home by the patient, no doctor’s visit
needed.
Ordering instructions:
Patient or doctor may contact MSU at:
Telephone: toll free at (877) TEST-DNA (877 837-8362)
OR
SmithKline Beecham
Clinical Labs
Requirements: Need
doctor's order/results sent to doctor
Cost: $200+
Tests for C282Y and
H63D mutations.
Results in three weeks
Sample: Blood sample
only
Ordering instructions:
doctor must contact local SmithKline Lab & order test.
Note: There are dozens
of labs around the country, which offer DNA PCR testing for hereditary
hemochromatosis, but AHS has referred many patients to these labs and received
a good response regarding their testing experience. The choice of a lab is up to you and your doctor, but
remember that not all labs test for both mutations for HH, so that should be a
prominent question when considering lab options.
IMPORTANT: If you do not use these labs, make sure that you have your doctor check with the lab that is being used, to verify that both CYS282 and HIS63 mutations are being tested. Some labs only test for the CYS282 gene mutation. Furthermore, some labs are still using the old, outdated and useless, HLA typing test and not the new DNA by PCR testing, when a doctor requests "genetic" testing for hemochromatosis. It is imperative that you and/or the doctor ask the lab if they specifically test for the CYS282 and HIS63 mutations to make sure that you are receiving the correct tests.
Genetic Testing in Canada
ALBERTA
Genetic testing is done in the molecular diagnostic labs in Calgary and Edmonton.
1) Calgary Contact:
Calgary Genetics Clinic,
Alberta Children's Hospital,
Tel: (403) 229-7373.
2) Edmonton Contact:
Edmonton Genetics Clinic,
University Hospital,
Tel: (403) 492-4077.
BRITISH COLUMBIA
Obtain requisition form from CHS office and bring to the doctor.
Doctor will fill out form and send patient to Vancouver Hospital, Lab Reception.
For inquiries, contact: Dr. W. Schreiber, Dept. of Pathology and Laboratory Medicine,
Vancouver Hospital,
855 W. 12th Ave.,
Vancouver, B.C.
V5Z 1M9,
Tel: (604) 875-4582.
2) Obtain requisition form from CHS office and bring to the doctor.
Doctor will fill out form and instruct lab to send sample to:
Room L213, B.C.
Children's Hospital,
4480 Oak St.,
Vancouver, B.C.
V6H 3N1.
For inquiries, contact:
Dr. G. Lockitch
Tel: (604) 875-2394.
MANITOBA
Physicians contact Section of Genetics and Metabolism at the Health Sciences Centre in Winnipeg,
820 Sherbrooke St.,
Winnipeg, MB.
R3A 1R9.
Tel: (204) 787-2499.
ONTARIO
Sample must be ordered by referring doctor and then sent to
The Reference Lab of Dr. Sherryl Taylor,
Molecular Diagnostics Lab,
Kingston General Hospital,
76 Stuart St.,
Kingston, ON
K7L 2V7.
Tel: (613-549-6666, ext 4892).
QUEBEC
1) Contact:
Dr. Joel Lavoie, Ph.D.
CHUM Campus Saint-Luc,
Departement de Biochemies
1058 rue Saint-Denis,
Montreal, QC
H2X 3J4
Tel: (514) 281-2121
poste (4680), Fax: (514) 281-2573
2) Contact:
Make an appointment to see Dr. M. Deschènes at Royal Victoria Hospital,
Montreal,
Tel: (514) 843-1616.
MARITIME PROVINCES
Contact:
Dr. Bassam Nassar Clinical Chemistry Lab,
QEII Health Sciences Centre
1278 Tower Road,
Halifax, NS
Tel: (905) 428-2110
This table reflects the chance of an individual carrying the HH gene, depending on the relative that has been diagnosed with HH.
Individual Carrier Risk Carrier Probability
Parent 1 in 1 100%
Brother/Sister 2 in 3 67%
Aunt/Uncle 1 in 3 33%
First Cousin 1 in 4 25%