Description
Free fetal DNA may be detected in maternal plasma from early in gestation and used for detection of FGFR2 mutations. Total cell-free DNA reflecting both maternal and fetal material is extracted from maternal plasma collected from 9 weeks gestation. If earlier than 18 weeks then two blood samples collected a week apart may be required. Molecular analysis is performed by PCR, followed by NGS (Illumina MiSeq). Amplification of fetal DNA will be confirmed using HLA markers, or SRY-specific sequences.
Also known as
NIPD, NIPT, cffDNA
Request a test
When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
Additional information
Please notify laboratory in advance of sending a sample, samples should arrive within 48 hours. Gestation as determined by ultrasound scan is mandatory information to perform this test. This test is not applicable before 9 weeks gestation or in multiple pregnancies including vanishing twin. Testing can be offered to at risk pregnancies in cases of paternal achondroplasia or to exclude recurrence due to germline mosaicism. Please refer to information sheet for criteria in cases of abnormal ultrasound findings .
Sending address
Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
Barclay House
37 Queen Square
London
WC1N 3BH
Laboratory service
Genetics
Sample requirements
20ml blood (EDTA) from mother.
Reference range
Not applicable
Turnaround time
5 days from receipt of second sample
Disease / group
FGFR2
Cost
Upon request
Call in advance?
All referrals should be made via a Clinical Genetics Department, please contact the laboratory in advance of sending a sample.� Advance notice is required so samples can be processed rapidly upon receipt