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. 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
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When requesting this test please use the referral form provided. Please also refer to any additional information provided for this test.
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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 only be offered in cases of paternal apert syndrome or in at risk pregnancies due to germline mosaicism recurrence risk. In cases of abnormal ultrasound findings these should include both acrocephaly and symmetrical syndactyly.
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Great Ormond Street Hospital NE Thames Regional Genetics Service Laboratories
Great Ormond Street Hospital for Children
37 Queen Square
20ml blood (EDTA) from mother. Post 9 weeks this can be obtained in one sampling.
5 days from receipt of second sample
Disease / group
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