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

P2RY12
Platelet bleeding disorders NGS panel
NGS
Del Dup
P3H1
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
Osteogenesis imperfecta, type VIII
Sanger
Del Dup
P4HB
Cole-Carpenter syndrome 1
Del Dup
Sanger
Cole-Carpenter syndrome NGS panel
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
PAM16
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
PAPSS2
Spondylo-Epi-Metaphyseal dysplasias NGS panel
NGS
Del Dup
PARN
Dyskeratosis congenita NGS panel
NGS
Del Dup
PAX2
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
PAX9
Oligodontia - Selective tooth agenesis NGS panel
Del Dup
NGS
PCNT
Microcephalic primordial dwarfism NGS panel
Del Dup
NGS
PCYT1A
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondylometaphyseal dysplasia with cone-rod dystrophy
Del Dup
Sanger
PDCD10
Cerebral cavernous malformations 3
Sanger
Del Dup
Cerebral cavernous malformations NGS panel
Del Dup
NGS
Vascular malformations NGS panel
Del Dup
NGS
PDE6D
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
PDK3
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel
NGS
Del Dup
PDSS2
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
PEX5
Chondrodysplasia punctata and related disorders NGS panel
Del Dup
NGS
PEX7
Chondrodysplasia punctata and related disorders NGS panel
Del Dup
NGS
Rhizomelic chondrodysplasia punctata type 1
Sanger
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
Del Dup
NGS
PHEX
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Rickets, hypophosphatemic, X-linked dominant
Del Dup
NGS
PHGDH
Neu-Laxova syndrome 1
Del Dup
Sanger
Neu-Laxova syndrome 1 / 2
Sanger
Del Dup
Phosphoglycerate dehydrogenase deficiency
Sanger
Del Dup
PIEZO2
Distal arthrogryposes NGS panel
NGS
Del Dup
PIGA
Simpson-Golabi-Behmel syndrome, PIGA related
Sanger
Del Dup
Simpson-Golabi-Behmel, Sotos and Weaver syndrome NGS panel
Del Dup
NGS
PKP1
Epidermolysis bullosa NGS panel
Del Dup
NGS
PLAU
Platelet bleeding disorders NGS panel
NGS
Del Dup
PLCE1
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
PLEC
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
PLEC1
Epidermolysis bullosa NGS panel
NGS
Del Dup
PLEKHG5
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
PLEKHM1
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
Osteopetrosis NGS panel
Del Dup
NGS
Osteopetrosis, autosomal recessive 6
NGS
PLOD1
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
Ehlers-Danlos syndrome, type VI
NGS
Del Dup
PLOD2
Bruck syndrome 2
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
Del Dup
NGS
PLS3
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, PLS3 related
Del Dup
NGS
PMP22
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
PNPLA1
Ichthyosis NGS panel - Nonsyndromic
NGS
Del Dup
POLR1C
Treacher Collins syndrome 3
Del Dup
Sanger
Treacher Collins syndrome and related disorders NGS panel
NGS
Del Dup
POLR1D
Treacher Collins syndrome 2
Sanger
Del Dup
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
POMGNT1
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
POMK
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
POMP
Ichthyosis NGS panel - Nonsyndromic
NGS
Del Dup
POMT1
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
POMT2
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
POR
Craniosynostosis NGS panel
NGS
Del Dup
PORCN
Focal dermal hypoplasia
Sanger
Del Dup
PPIB
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type IX
Sanger
Del Dup
PRDM5
Brittle cornea syndrome 2
Sanger
Del Dup
PRKACG
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
PRKG1
Aortic aneurysm, familial thoracic 8
Del Dup
NGS
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel - Fixed
Del Dup
NGS
PRPS1
Charcot-Marie-Tooth disease NGS panel
Del Dup
NGS
PRX
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
PSAT1
Neu-Laxova syndrome 1 / 2
Sanger
Del Dup
Neu-Laxova syndrome 2
Sanger
Del Dup
Phosphoserine aminotransferase deficiency
Del Dup
Sanger
PTCH1
Basal cell nevus syndrome - PTCH1
NGS
Del Dup
Basal cell nevus syndrome NGS panel
NGS
Del Dup
PTCH2
Basal cell nevus syndrome - PTCH2
NGS
Del Dup
Basal cell nevus syndrome NGS panel
Del Dup
NGS
PTDSS1
Dense bone dysplasia NGS panel
NGS
Del Dup
Osteopetrosis and Dense bone dysplasia NGS panel
Del Dup
NGS
PTEN
Vascular malformations NGS panel
Del Dup
NGS
PTH1R
Chondrodysplasia, Blomstrand type
NGS
Del Dup
Eiken syndrome
NGS
Del Dup
Failure of tooth eruption, primary
NGS
Del Dup
Metaphyseal chondrodysplasia, Jansen type
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
Del Dup
NGS
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
PTPN11
Noonan spectrum disorder NGS panel
Del Dup
NGS
PTPRO
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
PYCR1
Cutis laxa NGS panel
Del Dup
NGS
Cutis laxa, autosomal recessive, type IIB & type IIIB
Sanger
Del Dup

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