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There are two types of testing for genetic mutations: research and clinical.
Because of its strict regulation, clinical testing can be used to make a
diagnosis of a genetic mutation. Research testing (that which you get when
you enroll in a study) must be verified by a clinical test before it is
considered to be a formal diagnosis.
At this time, there is only one laboratory in the USA that is approved to
perform clinical testing of the CCM1, CCM2, and CCM3 genes. This is Prevention
Genetics, a for-profit laboratory. The information below describes the tests
that are offered and the costs involved as of the time of this posting. The
information that your doctor or genetic counselor will need to begin the
testing process can be found on the Clinical DNA Testing Services page of the
Prevention Genetics website. The site provides the specimen and shipping
requirements as well as the CPT codes that can be used to bill insurance.
Many insurance carriers will cover diagnostic genetic testing. Prevention
Genetics does not offer prenatal testing.
Before beginning clinical genetic testing, there are several things to know.
First, genetic testing by sequencing the gene can only rule in a mutation; it
can not rule out one. This means that a negative result does not necessarily
mean that a genetic mutation does not exist. There are two reasons for this.
First, this is because there are ways that a gene can mutate that are not
picked up by sequencing – follow up testing would be performed if this were
suspected. Second, a small portion of the CCM2 gene has not been reliably
sequenced, so a mutation on this gene may be missed.
Another more obvious caution is that it appears that not all of the genes that
can cause hereditary CCM have been discovered at this time.
That said, if you choose to have genetic testing and a genetic mutation is
identified, this can make it very affordable for your family to be screened
for the mutation. Rather than going through an MRI, other family members can
submit blood, or in some cases simple cheek swabs, for “CCM Known Mutation
Detection” or “KRIT1 Common Hispanic Mutation Detection” sequencing.
Genetic testing can yield potentially upsetting results. Please make certain
that you have the necessary support –a genetic counselor or a very knowledgeable
and compassionate doctor – before beginning this process.
Prevention Genetics Testing Available
Note: Only 1 blood sample is required to run all tests.
For additional information about each test, see the Clinical DNA Testing
Services page of the Prevention Genetics website.
Cerebral Cavernous Malformation 1 (CCM1) KRIT1 exon 10 “Common Hispanic”
Mutation Detection.
The identical KRIT1 mutation is common to many Hispanic families affected with CCMs.
Cost KRIT1/CCM1 “Common Hispanic” Mutation Test by Sequencing
KRIT1 exon 10 $210.00
Cerebral Cavernous Malformation 1 (CCM1) KRIT1 Mutation Detection by Sequencing.
Other CCM1 kindreds harbor other mutations in other exons of the
KRIT1 gene. Identification
of these other mutations has potential clinical significance for presymptomatic diagnosis of
CCM in this population and their families.
Cost KRIT1/CCM1 Mutation Test by Sequencing the 16 KRIT1 gene exons $1,410.00
Cerebral Cavernous Malformation 2 (CCM2) MGC4607 Mutation Detection by Sequencing.
In families where no KRIT1/CCM1 mutations are shown, CCM2 testing is available.
Cost MGC4607/CCM2 Mutation Test by Sequencing the 10 MGC4607 gene exons $980.00
Cerebral Cavernous Malformation 3 (CCM3) PDCD10 Mutation Detection by Sequencing.
A clinical test for this newest CCM3 gene is now available.
Cost PDCD10/CCM3 Mutation Test by Sequencing 7 PDCD10 gene exons $725.00
Cerebral Cavernous Malformation CCM Known Gene Mutation Detection by Sequencing.
In patients where a specific mutation has been demonstrated in a family member, testing will
focus on sequencing the exon where the known mutation has been observed.
Cost CCM Known Mutation Test by Specific Exon Sequencing $210.00
Accreditation Info. CLIA ID #: 52D1027685 (expires 1/18/07) (CAP#: 7185561, AU ID:
1407125 expires 12/20/06)
Ship to:
Attn: Diagnostics Lab
PreventionGenetics LLC
3700 Downwind Drive
Marshfield, WI 54449 USA
Contact for information:
Dr. Eric W. Johnson
Lab Director, Molecular Diagnostics and BioBanking
eric.johnson@preventiongenetics.com
Contact: 715-387-0484
FAX: 715-384-3661
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