U.S. LABORATORIES OFFERING DNA TESTING FOR CAH
|
NAME |
Center for Genetic Testing |
CompGene Comprehensive Genetic Services |
|
Esoterix, Inc. |
Mount Sinai Medical Center |
Quest Diagnostics |
|
DIRECTOR |
Frederick V. Schaefer, Ph.D., Director of Molecular Genetics |
Anthony T. Garber, Ph.D., Head of Molecular Genetics |
|
Frank K. Fujimura, Ph.D., Executive Director, Molecular Genetics |
Maria New, M.D., Professor of Pediatrics and Director, Adrenal Steroid Disorders Program |
Raymond Fenwick, Ph.D., Scientific Director, Molecular Endocrinology |
|
CONTACT INFORMATION |
6465 S. Yale Ave. Tulsa, OK 74136 Toll Free: (866) 846-0315 (918) 502-1725 www.saintfrancisgenetics.com |
3720 N. 24th St. Milwaukee, WI 53222 Toll free: (877) COMPGENE (414) 393-1000 www.compgene.com |
|
4301 Lost Hills Rd. Calabasas Hills, CA 91301 (800) 444-9111 www. esoterix.com |
1 Gustave Levy Place, Box 1198, Annenberg, 17th Floor, Rm. 271 New York, NY 10029 (212) 241-7962 www.marianew.com/Laboratory |
33608 Ortega Highway San Juan Capistrano, CA 92690 (949) 728-4000 www.questdiagnostics.com |
|
HOW LONG OFFERING CAH DNA TESTING |
10 years |
6 years |
|
1 year |
13 years |
1 year |
|
MUTATION DETECTION RATE |
94% |
90-95% |
|
95% with PCR and Southern blot; almost 100% with sequencing |
97% with PCR and Southern blot; almost 100% with sequencing |
90% |
|
HOW MANY TESTS DONE TO DATE? |
Over 500 |
Over 500 |
|
About 200 |
Over 5,000 |
Over 350 |
|
RESULTS INTERPRETATION / GENETIC COUNSELING INCLUDED |
Informally |
Available on site, not included in testing fee |
|
No genetic counseling; results interpretation given to referring physician |
Yes, included in testing fee. All results reviewed by Dr. Maria New; patient given interpretation in context of all clinical data |
Staff genetic counselor relays results to referring physician |
|
CLIENT PRICE |
$389 |
$324 |
|
$420 |
$600* |
$495 |
|
ACCEPT INSURANCE? |
Only from Oklahoma insurers |
Only from Wisconsin insurers |
|
Yes |
Yes |
Yes |
|
DRAW SAMPLES AT THE LAB |
Yes |
Yes |
|
Yes |
Yes |
No |
|
ACCEPT SELF-REFERRALS |
Yes |
No |
|
Yes |
Yes |
No |
|
USUAL PROCEDURE |
First, sequence most of latter half of gene; then mutation analysis by PCR; their method finds site-specific mutations, deletions and rearrangements. No Southern blot. |
Standard mutation panel, direct mutation analysis. PCR and Southern blot. No sequencing. Linkage analysis. |
|
PCR, multiplex mini-sequencing for 12 common mutations, Southern blot; further sequencing if requested. |
PCR for panel of selected mutations and Southern blot for deletions and gene conversions; sequencing when needed to make diagnosis |
PCR, multiplex mini-sequencing for panel of selected mutations; full gene sequencing for rare mutations available in mid- to late 2005 |
|
TURN-AROUND TIME |
3 weeks |
Linkage analysis: 72 hrs. DNA analysis: 7-10 days |
|
2 weeks |
3 weeks or less; urgent samples 2 weeks or less |
1 to 2 weeks |
|
PRENATAL DIAGNOSIS |
Yes |
Yes |
|
No |
Yes |
Yes |
|
TYPES OF SAMPLES TESTED |
Blood, cells from amniotic fluid (supernatant), cultured cells from amniocentesis or CVS; preserved tissue samples |
Blood, cells, prenatal cells, buccal cells, preserved tissue samples |
|
Blood |
Blood, DNA, cultured cells from amniocentesis and CVS |
Blood; prenatal specimens accepted only after speaking with staff genetic counselor |
|
FOR PRENATAL DIAGNOSIS, REQUIRE PARENT/S AS WELL AS OFFSPRING BE TESTED? |
Not required, often helpful; do as needed/desired |
Very strongly preferred, not absolutely required |
|
Not applicable |
Prefer to have parents or offspring, not both, for informative results. Not required when ultrasound findings are the indication for testing. |
Yes, either a parent or previously affected child must be tested in addition to offspring |
|
COMMENTS |
Integrate sequencing very early in test procedure; can test DNA directly from amniotic fluid; this gives fast results; also test cell cultures for quality control and maternal cell contamination studies |
Can test DNA directly from amniotic fluid; this gives fast results, also test cell cultures for quality control and maternal cell contamination studies |
|
|
*Fee includes genetic counseling and reflects laboratory’s specialization in this test. Leading CAH expert Dr. Maria New personally reviews each case. |
|
Name
Center for Genetic Testing
CompGene Comprehensive
Genetic Services
Esoterix, Inc.
Mount Sinai Medical Center
Quest Diagnostics
DIRECTOR
Frederick V. Schaefer, Ph.D., Director of Molecular Genetics
Anthony T. Garber, Ph.D., Head of Molecular Genetics
Frank K. Fujimura, Ph.D., Executive Director, Molecular Genetics
|
Maria New, M.D., Professor of Pediatrics and Director, Adrenal Steroid Disorders Program |
Raymond Fenwick, Ph.D., Scientific Director, Molecular Endocrinology |
|
Maria New, M.D., Professor of Pediatrics and Director, Adrenal Steroid Disorders Program |
Raymond Fenwick, Ph.D., Scientific Director, Molecular Endocrinology |
Maria New, M.D.,Professor of Pediatrics and Director, Adrenal Steroid Disorders Program
Raymond Fenwick, Ph.D., Scientific Director, Molecular Endocrinology
CONTACT INFORMATION
6465 S. Yale Ave.,Tulsa, OK 74136
Toll Free: (866) 846-0315;(918) 502-1725
3720 N. 24th St.,Milwaukee, WI 53222
Toll free: (877) COMPGENE (414) 393-1000
4301 Lost Hills Rd.,Calabasas Hills, CA 91301
(800) 444-9111
1 Gustave Levy Place, Box 1198, Annenberg, 17th Floor, Rm. 271, New York, NY 10029
(212) 241-7962
http://www.marianew.com/Laboratory.html
33608 Ortega Highway,San Juan Capistrano, CA 92690
(949) 728-4000
HOW LONG OFFERING CAH DNA TESTING
MUTATION DETECTION RATE
94%
90-95%
90-95%
97% with PCR and Southern blot; almost 100% with sequencing
90%
HOW MANY TESTS DONE TO DATE?
Over 500
Over 500
About 200
Over 5,000
Over 350
RESULTS INTERPRETATION / GENETIC COUNSELING INCLUDED
Available on site, not included in testing fee
No genetic counseling; results interpretation given to referring physician
Yes, included in testing fee. All results reviewed by Dr. Maria New; patient given interpretation in context of all clinical data
Staff genetic counselor relays results to referring physician
CLIENT PRICE
$389
$324
$420
ACCEPT INSURANCE?
Only from Oklahoma insurers
Only from Wisconsin insurers
Yes
Yes
Yes
DRAW SAMPLES AT THE LAB
Yes
Yes
Yes
Yes
Yes
ACCEPT SELF-REFERRALS
USUAL PROCEDURE
First, sequence most of latter half of gene; then mutation analysis by PCR; their method finds site-specific mutations, deletions and rearrangements. No Southern blot.
Standard mutation panel, direct mutation analysis. PCR and Southern blot. No sequencing. Linkage analysis.
PCR, multiplex mini-sequencing for 12 common mutations; detection of gene conversion and gene deletions, sequencing of selected exons
PCR for panel of selected mutations and Southern blot for deletions and gene conversions; sequencing when needed to make diagnosis.
PCR, multiplex mini-sequencing for panel of selected mutations; full gene sequencing for rare mutations available in mid- to late 2005
TURN-AROUND TIME
3 weeks
Linkage analysis: 72 hrs.
DNA analysis: 7-10 days
2 weeks
3 weeks or less; urgent samples 2 weeks or less
1-2 weeks
PRENATAL DIAGNOSIS
Yes
Yes
No
Yes
Yes
TYPES OF SAMPLES TESTED
Blood, cells from amniotic fluid (supernatant), cultured cells from amniocentesis or CVS; preserved tissue samples
Blood, cells, prenatal cells, buccal cells, preserved tissue samples
Blood
Blood, DNA, cultured cells from amniocentesis and CVS
Blood; prenatal specimens accepted only after speaking with staff genetic counselor
FOR PRENATAL DIAGNOSIS, REQUIRE PARENT/S AS WELL AS OFFSPRING BE TESTED?
Not required, often helpful; do as needed/desired
Very strongly preferred, not absolutely required
Not Applicable
Prefer to have parents or offspring, not both, for informative results. Not required when ultrasound findings are the indication for testing.
Yes, either a parent or previously affected child must be tested in addition to offspring
COMMENTS
Integrate sequencing very early in test procedure; can test DNA directly from amniotic fluid; this gives fast results; also test cell cultures for quality control and maternal cell contamination studies
Can test DNA directly from amniotic fluid; this gives fast results, also test cell cultures for quality control and maternal cell contamination studies
*Fee includes genetic counseling and reflects laboratory’s specialization in this test. Leading CAH expert Dr. Maria New personally reviews each case.
