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
NGS
Del Dup
Osteogenesis imperfecta, type VIII
Del Dup
NGS
P4HB
Cole-Carpenter syndrome 1
NGS
Del Dup
Cole-Carpenter syndrome NGS panel
NGS
Del Dup
Osteogenesis imperfecta NGS panel - Dominant
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Dominant & Recessive
NGS
Del Dup
PAFAH1B1
Lissencephaly and related disorders NGS panel
NGS
Del Dup
Lissencephaly core NGS panel
NGS
Del Dup
PAM16
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
PAPSS2
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
PARN
Dyskeratosis congenita NGS panel
Del Dup
NGS
PAX2
Nephrotic syndrome and related disorders NGS panel
NGS
Del Dup
PAX3
Waardenburg syndrome NGS panel
NGS
Del Dup
PAX9
Oligodontia - Selective tooth agenesis NGS panel
NGS
Del Dup
PCNT
Microcephalic primordial dwarfism NGS panel
NGS
Del Dup
PCYT1A
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
Spondylometaphyseal dysplasia with cone-rod dystrophy
Del Dup
NGS
Sanger
PDCD10
Cerebral cavernous malformations 3
Del Dup
NGS
Cerebral cavernous malformations NGS panel
NGS
Del Dup
Vascular malformations NGS panel
NGS
Del Dup
PDE6D
Joubert syndrome and related disorders NGS panel
Del Dup
NGS
PDGFRB
Overgrowth syndrome NGS panel
Del Dup
NGS
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
PDK3
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
Distal hereditary motor neuropathy and related disorders NGS panel
Del Dup
NGS
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
Del Dup
NGS
Sanger
Skeletal dysplasia and skeletal ciliopathy NGS panel
Del Dup
NGS
Skeletal dysplasia core & extended NGS panel
Del Dup
NGS
Skeletal dysplasia extended NGS panel
NGS
Del Dup
PFN1
Amyotrophic lateral sclerosis and related disorders NGS panel
NGS
Del Dup
PHEX
Abnormal mineralization disorders NGS panel
NGS
Del Dup
Rickets, hypophosphatemic, X-linked dominant
NGS
Del Dup
PHGDH
Neu-Laxova syndrome 1
Del Dup
NGS
Neu-Laxova syndrome NGS panel
Del Dup
NGS
Phosphoglycerate dehydrogenase deficiency
Del Dup
NGS
PIBF1
Joubert syndrome and related disorders NGS panel
NGS
Del Dup
PIEZO2
Congenital contracture syndrome extended NGS panel
NGS
Del Dup
Distal arthrogryposes NGS panel
NGS
Del Dup
PIGA
Overgrowth syndrome NGS panel
Del Dup
NGS
Simpson-Golabi-Behmel syndrome, PIGA related
NGS
Sanger
Del Dup
PIK3R2
Megalencephaly-polymicrogyria-polydactyly-hydrocephalus NGS panel
Del Dup
NGS
PIP5K1C
Congenital contracture syndrome extended NGS panel
Del Dup
NGS
Lethal congenital contracture syndrome and related disorders NGS Panel
Del Dup
NGS
PKD1
Polycystic kidney disease and related disorders NGS panel
NGS
Del Dup
Polycystic liver disease NGS panel
NGS
Del Dup
PKD2
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
Polycystic liver disease NGS panel
Del Dup
NGS
PKHD1
Nephronophthisis and related disorders NGS panel
NGS
Del Dup
Polycystic kidney disease and related disorders NGS panel
Del Dup
NGS
Polycystic liver disease NGS panel
Del Dup
NGS
PKP1
Epidermolysis bullosa NGS panel
NGS
Del Dup
PKP2
Brugada syndrome and related disorders NGS panel
Del Dup
NGS
Cardiac channelopathy NGS panel
NGS
Del Dup
PLAU
Platelet bleeding disorders NGS panel
NGS
Del Dup
PLCB4
Auriculocondylar syndrome NGS panel
NGS
Del Dup
PLCE1
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
PLEC
Epidermolysis bullosa NGS panel
NGS
Del Dup
Limb girdle muscular dystrophy 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
Del Dup
NGS
PLOD1
Connective tissue disorder NGS panel
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
Ehlers-Danlos syndrome, kyphoscoliotic type, 1
Del Dup
NGS
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
Del Dup
NGS
POLD1
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
POLH
Xeroderma pigmentosum NGS panel
NGS
Del Dup
POLR1A
Treacher Collins syndrome and related disorders NGS panel
NGS
Del Dup
POLR1C
Treacher Collins syndrome 3
Del Dup
NGS
Sanger
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
Treacher Collins syndrome core NGS panel
NGS
Del Dup
POLR1D
Treacher Collins syndrome 2
Del Dup
NGS
Sanger
Treacher Collins syndrome and related disorders NGS panel
Del Dup
NGS
Treacher Collins syndrome core NGS panel
Del Dup
NGS
POMGNT1
Limb girdle muscular dystrophy NGS panel
NGS
Del Dup
Lissencephaly and related disorders NGS panel
NGS
Del Dup
POMGNT2
Lissencephaly and related disorders NGS panel
Del Dup
NGS
POMK
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Lissencephaly and related disorders NGS panel
Del Dup
NGS
POMP
Ichthyosis NGS panel
Del Dup
NGS
POMT1
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Lissencephaly and related disorders NGS panel
Del Dup
NGS
POMT2
Limb girdle muscular dystrophy NGS panel
Del Dup
NGS
Lissencephaly and related disorders NGS panel
NGS
Del Dup
POR
Craniosynostosis NGS panel
Del Dup
NGS
PORCN
Focal dermal hypoplasia
NGS
Del Dup
POU1F1
Short stature with endocrinopathy NGS panel
NGS
Del Dup
PPIB
Osteogenesis imperfecta NGS panel - Dominant & Recessive
Del Dup
NGS
Osteogenesis imperfecta NGS panel - Recessive
NGS
Del Dup
Osteogenesis imperfecta, type IX
Del Dup
NGS
Sanger
PPP1CB
Noonan spectrum disorder NGS panel
Del Dup
NGS
PRDM5
Brittle cornea syndrome 2
NGS
Del Dup
Brittle cornea syndrome NGS panel
Del Dup
NGS
Connective tissue disorder NGS panel
Del Dup
NGS
Ehlers-Danlos syndrome NGS panel - Dominant & Recessive
NGS
Del Dup
Ehlers-Danlos syndrome NGS panel - Recessive
NGS
Del Dup
Keratoconus and related disorders NGS panel
Del Dup
NGS
PRKACG
Platelet bleeding disorders NGS panel
Del Dup
NGS
Thrombocytopenia NGS Panel
Del Dup
NGS
PRKCSH
Polycystic liver disease NGS panel
NGS
Del Dup
PRKG1
Aortic aneurysm, familial thoracic 8
Del Dup
NGS
Connective tissue disorder NGS panel
NGS
Del Dup
Marfan syndrome, Loeys-Dietz syndrome, Familial thoracic aortic aneurysms & dissections, and Related disorders NGS panel
NGS
Del Dup
PROP1
Short stature with endocrinopathy NGS panel
Del Dup
NGS
PRPH2
Leber congenital amaurosis and related disorders NGS panel
Del Dup
NGS
PRPS1
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
PRX
Charcot-Marie-Tooth disease NGS panel
NGS
Del Dup
PSAT1
Neu-Laxova syndrome 2
Del Dup
NGS
Neu-Laxova syndrome NGS panel
NGS
Del Dup
Phosphoserine aminotransferase deficiency
NGS
Del Dup
PTCH1
Basal cell nevus syndrome - PTCH1
NGS
Del Dup
Basal cell nevus syndrome NGS panel
Del Dup
NGS
PTCH2
Basal cell nevus syndrome - PTCH2
Del Dup
NGS
Basal cell nevus syndrome NGS panel
Del Dup
NGS
PTDSS1
Dense bone dysplasia NGS panel
Del Dup
NGS
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
Del Dup
NGS
Metaphyseal chondrodysplasia, Jansen type
Del Dup
NGS
Oligodontia - Selective tooth agenesis NGS panel
Del Dup
NGS
Skeletal dysplasia and skeletal ciliopathy NGS panel
NGS
Del Dup
Skeletal dysplasia core & extended NGS panel
NGS
Del Dup
Skeletal dysplasia extended NGS panel
NGS
Del Dup
Spondylo-Epi-Metaphyseal dysplasias NGS panel
Del Dup
NGS
PTPN11
Noonan spectrum disorder NGS panel
NGS
Del Dup
Noonan syndrome core NGS panel
NGS
Del Dup
PTPRO
Nephrotic syndrome and related disorders NGS panel
Del Dup
NGS
PYCR1
Cutis laxa NGS panel
NGS
Del Dup
Cutis laxa, autosomal recessive, type IIB & type IIIB
NGS
Del Dup
Progeroid syndromes and related disorders NGS panel
Del Dup
NGS
PYROXD1
Myofibrillar myopathy and related disorders NGS panel
NGS
Del Dup

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