List of diseases covered by Craniosynostosis NGS panel

List of diseases covered by
Craniosynostosis NGS panel

Gene Condition
ALX4 Craniosynostosis 5, susceptibility to; Frontonasal dysplasia 2;
Parietal foramina 2
CD96 Opitz trigonocephaly syndrome (C syndrome)
EFNB1 Craniofrontonasal syndrome
ERF Craniosynostosis 4
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
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I;
Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
GLI3 Greig cephalopolysyndactyly syndrome;
Pallister-Hall syndrome; Polydactyly, postaxial, types A1 and B;
Polydactyly, preaxial, type IV
IHH Syndactyly, type 1, with or
without craniosynostosis (duplication 2q35);
Acrocapitofemoral dysplasia; Brachydactyly, type A1
IL11RA Craniosynostosis and dental anomalies
SMAD6 Craniosynostosis 7, susceptibility to
MSX2 Craniosynostosis 2; Parietal foramina 1;
Parietal foramina with cleidocranial dysplasia
POR Antley-Bixler syndrome with genital anomalies
and disordered steroidogenesis;
Disordered steroidogenesis due to cytochrome P450 oxidoreductase
RAB23 Carpenter syndrome
RECQL4 Baller-Gerold syndrome; RAPADILINO syndrome;
Rothmund-Thomson syndrome
SEC24D Cole-Carpenter syndrome 2
SKI Shprintzen-Goldberg syndrome
SOX9 Campomelic dysplasia; Acampomelic campomelic dysplasia;
Campomelic dysplasia with autosomal sex reversal
TCF12 Craniosynostosis-3
TGFBR1 Loeys-Dietz Syndrome; Multiple self-healing squamous epithelioma,
susceptibility to
TGFBR2 Loeys-Dietz Syndrome
TWIST1 Craniosynostosis 1; Robinow-Sorauf syndrome;
Saethre-Chotzen syndrome with or without eyelid anomalies;
Sweeney-Cox syndrome
ZIC1 Craniosynostosis 6; Structural brain anomalies with impaired
intellectual development and craniosynostosis

Craniosynostosis NGS panel

Craniosynostosis
NGS panel

Genes
(full coding
region):
ALX4, CD96, EFNB1, ERF, FGFR1, FGFR2, FGFR3, FLNA, GLI3, IHH, IL11RA, MSX2, POR, RAB23, RECQL4, SEC24D, SKI, SMAD6, SOX9, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1

List of diseases covered by the panel


Lab method: NGS panel with CNV analysis

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