Kimball Genetics - One-Day Cystic Fibrosis DNA Test


One-Day Cystic Fibrosis DNA Test

Mutations Tested (36): ACMG/ACOG Recommended Mutation Panel (23):
ΔF508	ΔI507	G542X	G551D	W1282X	N1303K
R553X	621+1G→T	R117H	1717-1G→A	A455E	R560T
R1162X	G85E	R334W	R347P	711+1G→T	1898+1G→A
2184delA	1078delT	3849+10kbC→T	2789+5G→A	3659delC

Plus 13 Additional Mutations:

3905insT	2183AA→G
S1251N	E60X
Q552X	2143delT
394delTT	711+5G→A
3272-26A→G	CFTRdele2,3
I148T	1078delT
3199del6

•	5T/7T/9T typing is performed on a reflex basis. If desired, this typing can be performed on any sample at no additional cost.
•	With our test methodology, theΔF508 probe is specific and will not give a false positive result with the polymorphisms F508C, I506V or I507V.

Detection Rates:

Ethnic Group	Detection Rate
European Caucasian	90%
Ashkenazi Jewish	97%
African American	69%
Hispanic	72%
Asian	Not determined

Sample Requirements:

•	Cheek cells or 5 ml of whole blood in an EDTA (lavender) tube (collection kits provided at no charge)
•	Send at room temperature; shipping provided

Prenatal Testing:

•	Direct CVS: 5-10 mg CVS (in tube of sterile buffer)
•	Direct amnio: 10 cc amniotic fluid
•	Direct amnio: 10 cc amniotic fluid
•	Cultured CVS or amnio: 2 T25 flasks of confluent cultured CVS cells or amniocytes
•	Maternal cell contamination studies are performed at no charge when cystic fibrosis DNA testing is being performed on a prenatal sample and a maternal blood cell sample is provided (5 ml whole blood in EDTA tube).

Turnaround Time:

•	Cheek cells and blood: 1 business day
•	Prenatal sample: 3 business days (direct or cultured)

Please call Kimball Genetics for more information.

References PDF

650 S. Cherry Street, Suite 225, Denver, Colorado 80246
Tel: 800-320-1807 - 303-320-1807 - Fax: 303-388-9220 - International: 001-303-320-1807
Email : info@kimballgenetics.com

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