Non-Invasive prenatal testing for FGFR3-related skeletal dysplasia


Free fetal DNA may be detected in maternal plasma from early in gestation and used for detection of FGFR3 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


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

Rare & Inherited Disease Laboratory
London North Genomic Laboratory Hub
Great Ormond Street Hospital for Children
Levels 4-6 Barclay House
37 Queen Square

Laboratory service


Sample requirements

20ml blood (EDTA) from mother.

Reference range

Not applicable

Turnaround time

5 days from receipt of second sample

Disease / group



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


The Genetics Laboratories provide an extensive range of Cytogenetics and Molecular Genetics diagnostic testing services.

© 2011 Great Ormond Street Hospital for Children NHS Trust