List of diseases covered by Craniosynostosis NGS panel

List of diseases covered by
Craniosynostosis NGS panel

Gene Condition
FGFR1 Pfeiffer syndrome; Encephalocraniocutaneous lipomatosis;
Hartsfield syndrome; Hypogonadotropic hypogonadism 2
with or without anosmia; Jackson-Weiss syndrome;
Osteoglophonic dysplasia; Trigonocephaly 1
FGFR2 Apert syndrome; Beare-Stevenson cutis gyrata syndrome;
Antley-Bixler syndrome without genital anomalies or
disordered steroidogenesis; Bent bone dysplasia syndrome;
Craniofacial-skeletal-dermatologic dysplasia; Crouzon syndrome;
Jackson-Weiss syndrome; LADD syndrome;
Pfeiffer syndrome; Saethre-Chotzen syndrome;
Scaphocephaly, maxillary retrusion, and mental retardation
FGFR3 Achondroplasia; CATSHL syndrome;
Crouzon syndrome with acanthosis nigricans; Hypochondroplasia;
LADD syndrome; Muenke syndrome; SADDAN;
Thanatophoric dysplasia, type I; Thanatophoric dysplasia, type II
IL11RA Craniosynostosis and dental anomalies
MSX2 Craniosynostosis 2; Parietal foramina 1;
Parietal foramina with cleidocranial dysplasia
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
TWIST1 Craniosynostosis 1; Robinow-Sorauf syndrome;
Saethre-Chotzen syndrome with or without eyelid anomalies;
Sweeney-Cox syndrome

Craniosynostosis NGS panel

Craniosynostosis
NGS panel

Genes
(full coding
region):
FGFR1, FGFR2, FGFR3, IL11RA, MSX2, RECQL4, TWIST1

List of diseases covered by the panel


Lab method: NGS panel

NGS panel with CNV


TAT: 6-9 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form

Deletion/duplication analysis of the TWIST1 gene

Genes: TWIST1

Lab method: MLPA

TAT: 4-6 weeks

Specimen requirements: 2-4 ml of blood with anticoagulant EDTA

1 µg DNA in TE, AE or pure sterile water at 100-250 ng/µl
The A260/A280 ratio should be 1.8-2.0. DNA sample should be run on an agarose gel as a single band, showing no degradation, alongside with a quantitative DNA marker.


Ordering information: Go to online ordering or download sample submission form