Browse CTGT's catalogue of connective tissue tests, including NGS panels, by gene.

FAH
Abnormal mineralization disorders NGS panel
NGS
Del Dup
FAM111A
Gracile bone dysplasia
NGS
Del Dup
Kenny-Caffey syndrome NGS panel
Del Dup
NGS
Kenny-Caffey syndrome, type 2
Del Dup
NGS
FAM20A
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
Nephrolithiasis and related disorders NGS panel
Del Dup
NGS
FAM20C
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
Del Dup
NGS
FAM83H
Amelogenesis imperfecta and related disorders NGS panel
Del Dup
NGS
FAR1
Chondrodysplasia punctata and related disorders NGS panel
NGS
Del Dup
FBLN5
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal dominant 2 & autosomal recessive, type IA
Del Dup
NGS
FBN1
Acromicric dysplasia
Sanger
Ectopia lentis NGS panel
NGS
Del Dup
Ectopia lentis, isolated, autosomal dominant
Del Dup
NGS
Fibrillinopathy NGS panel
Del Dup
NGS
Geleophysic dysplasia 2
Sanger
Marfan syndrome and Loeys-Dietz syndrome core NGS panel
NGS
Del Dup
Marfan syndrome and Loeys-Dietz syndrome NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
Marfan syndrome, type I
NGS
Del Dup
Marfan syndrome, type I / II NGS panel
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
Stiff skin syndrome
NGS
Del Dup
Weill-Marchesani syndrome 2
Del Dup
NGS
Weill-Marchesani syndrome NGS panel
NGS
Del Dup
FBN2
Congenital contractural arachnodactyly
Del Dup
NGS
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Distal arthrogryposes NGS panel
Del Dup
NGS
Fibrillinopathy NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
FBXO38
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
FERMT1
Epidermolysis bullosa NGS panel
Del Dup
NGS
FERMT3
Osteopetrosis and Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis NGS panel
NGS
Del Dup
FGD4
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
FGF12
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
Del Dup
NGS
FGF23
Abnormal mineralization disorders NGS panel
Del Dup
NGS
Hyperphosphatemic familial tumoral calcinosis - FGF23
NGS
Del Dup
Sanger
Hyperphosphatemic familial tumoral calcinosis NGS panel
Del Dup
NGS
Rickets, hypophosphatemic, autosomal dominant
Del Dup
NGS
Sanger
FGFR1
Craniosynostosis core NGS panel
Del Dup
NGS
Craniosynostosis NGS panel
NGS
Del Dup
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
Pfeiffer syndrome
Sanger
FGFR2
Apert syndrome
Sanger
Beare-Stevenson cutis gyrata syndrome
Sanger
Bent bone dysplasia syndrome
Del Dup
NGS
Craniosynostosis core NGS panel
Del Dup
NGS
Craniosynostosis NGS panel
Del Dup
NGS
Crouzon syndrome
Sanger
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
FGFR2 related craniosynostosis
Del Dup
NGS
Jackson-Weiss syndrome
Sanger
Pfeiffer syndrome
Sanger
FGFR3
Achondroplasia / Hypochondroplasia
Del Dup
NGS
Sanger
Camptodactyly, tall stature, and hearing loss syndrome
Del Dup
NGS
Craniosynostosis core NGS panel
Del Dup
NGS
Craniosynostosis NGS panel
Del Dup
NGS
Crouzon syndrome with acanthosis nigricans
Sanger
FGFR1, FGFR2 and FGFR3 related craniosynostosis panel
Sanger
FGFR1, FGFR2, FGFR3 & TWIST1 related craniosynostosis panel
Sanger
Muenke syndrome
Sanger
Saethre-Chotzen syndrome
Sanger
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia core NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Thanatophoric dysplasia, type I / II
NGS
Sanger
Del Dup
FHL1
Distal Myopathy NGS panel
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Myofibrillar myopathy and related disorders NGS panel
Del Dup
NGS
FIG4
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
FKBP10
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type XI
Del Dup
NGS
Sanger
FKBP14
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
FKRP
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
FKTN
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
FLCN
Birt-Hogg-Dube syndrome
Del Dup
NGS
Pneumothorax, primary spontaneous
Del Dup
NGS
FLG
Ichthyosis NGS panel
Del Dup
NGS
FLG2
Ichthyosis NGS panel
Del Dup
NGS
Peeling skin syndrome NGS panel
Del Dup
NGS
FLI1
Thrombocytopenia NGS Panel
NGS
Del Dup
FLNA
Cardiac valvular dysplasia, X-linked
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Frontometaphyseal dysplasia
Del Dup
NGS
Frontometaphyseal dysplasia NGS panel
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
Melnick-Needles syndrome
Del Dup
NGS
Otopalatodigital syndrome, type I / II
Del Dup
NGS
Periventricular nodular heterotopia 1
Del Dup
NGS
Terminal osseous dysplasia
NGS
Del Dup
FLNB
Atelosteogenesis, type I / III
NGS
Sanger
Del Dup
Boomerang dysplasia
Del Dup
NGS
Sanger
Desbuquois dysplasia and related disorders NGS panel
NGS
Del Dup
Larsen syndrome, autosomal dominant
Del Dup
NGS
Sanger
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
Spondylocarpotarsal synostosis syndrome
Del Dup
NGS
FLNC
Distal Myopathy NGS panel
Del Dup
NGS
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
Myofibrillar myopathy and related disorders NGS panel
NGS
Del Dup
FLVCR2
Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome
NGS
Del Dup
FN1
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
FOXE1
Cleft lip, cleft palate and related disorders NGS panel
Del Dup
NGS
FOXE3
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
Del Dup
NGS
FOXF1
Pulmonary hypertension NGS panel
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
FREM1
Craniosynostosis NGS panel
Del Dup
NGS
FUS
Amyotrophic lateral sclerosis and related disorders NGS panel
Del Dup
NGS
FYB
Thrombocytopenia NGS Panel
NGS
Del Dup
FZD2
Omodysplasia NGS panel
NGS
Del Dup
Robinow syndrome NGS panel
NGS
Del Dup
FZD4
Exudative vitreoretinopathy 1
NGS
Sanger
Del Dup
Exudative vitreoretinopathy NGS panel
NGS
Del Dup
Vitreoretinopathy NGS panel
Del Dup
NGS

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