Bone & Joint Disorders
DNA Labs India | Diagnostic Tests
Bone & Joint Disorders
Clinical Overview
Sub-category mapping under Genetics & Genomics
| Reviewed by: Dr. Rajesh Kumar, MD Pathology | ISO 9001:2015 Certified Laboratory
This content is for educational purposes only. Always consult a qualified healthcare provider for medical advice.
Tests
ACTN3 (Sports Gene) Genotyping Test
The purpose of the ACTN3 Sports Gene Genotyping Test is to determine an individual's genetic makeup...
COL11A1 Gene Marshall syndrome NGS Genetic Test
To confirm a diagnosis of Marshall syndrome by identifying pathogenic mutations in the COL11A1 gene,...
WISP3 Gene Arthropathy, progressive pseudorheumatoid, of childhood NGS Genetic Test
To diagnose Progressive Pseudorheumatoid Arthropathy of Childhood (PPAC) by detecting mutations in t...
FLNB Gene Atelosteogenesis type 3 NGS Genetic Test
The purpose of the FLNB Gene Atelosteogenesis Type 3 NGS Genetic Test is to confirm the diagnosis of...
MYH8 Gene Arthrogryposis, distal, type 7 NGS Genetic Test
To diagnose distal arthrogryposis type 7 caused by MYH8 gene mutations, enabling accurate medical ma...
FLNB Gene Atelosteogenesis type 1 NGS Genetic Test
To detect mutations in the FLNB gene for definitive diagnosis of Atelosteogenesis Type 1, enabling e...
EBP Gene Chondrodysplasia punctata, X-linked dominant NGS Genetic Test
The purpose of this test is to detect mutations in the EBP gene that cause X-linked dominant chondro...
RUNX2 Gene Cleidocranial dysplasia NGS Genetic Test
The RUNX2 Gene Cleidocranial Dysplasia NGS Genetic Test is performed to confirm a clinical diagnosis...
ARSE Gene Chondrodysplasia punctata, X-linked recessive NGS Genetic Test
The purpose of this test is to diagnose Chondrodysplasia punctata caused by ARSE gene mutations, con...
ANKH Gene Chondrocalcinosis type 2 NGS Genetic Test
The purpose of the ANKH Gene Chondrocalcinosis Type 2 NGS Genetic Test is to identify pathogenic mut...
P4HB Gene Cole-Carpenter syndrome type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the P4HB gene using Next-Generation Sequencing to...
COMP Gene Epiphyseal dysplasia, multiple, type 1 NGS Genetic Test
To identify mutations in the COMP gene for accurate diagnosis of epiphyseal dysplasia, multiple, typ...
MATN3 Gene Epiphyseal dysplasia, multiple, type 5 NGS Genetic Test
The purpose of the MATN3 Gene NGS Genetic Test is to accurately diagnose Epiphyseal Dysplasia, Multi...
COL9A3 Gene Epiphyseal dysplasia, multiple, type 3 NGS Genetic Test
The purpose of the COL9A3 Gene Epiphyseal Dysplasia Type 3 NGS Genetic Test is to identify pathogeni...
LPIN2 Gene Majeed syndrome NGS Genetic Test
To detect mutations in the LPIN2 gene for accurate diagnosis of Majeed syndrome, aiding in clinical...
TGFBR2 Gene Marfan syndrome, TGFBR2 related NGS Genetic Test
To identify mutations in the TGFBR2 gene for diagnosing Marfan syndrome and assessing genetic risk.
TGFBR1 Gene Marfan syndrome, TGFBR1 related NGS Genetic Test
To diagnose Marfan syndrome caused by TGFBR1 gene mutations and assess family risk for early interve...
TGFBR1 Gene Loeys-Dietz syndrome type 2A NGS Genetic Test
To diagnose Loeys-Dietz syndrome type 2A by detecting mutations in the TGFBR1 gene using NGS technol...
IDH1 Gene Metaphyseal chondromatosis with increased urinary excretion of D-2-hydroxyglutarate NGS Genetic Test
The purpose of this test is to diagnose IDH1 gene metaphyseal chondromatosis with increased urinary...
COL10A1 Gene Metaphyseal chondrodysplasia, Schmid type NGS Genetic Test
The purpose of the COL10A1 Gene MCDS NGS Genetic Test is to confirm a diagnosis of Metaphyseal chond...
CLCN7 Gene Osteopetrosis, autosomal recessive type 4 NGS Genetic Test
To identify pathogenic mutations in the CLCN7 gene for accurate diagnosis of autosomal recessive ost...
P3H1 Gene Osteogenesis imperfecta type 8 NGS Genetic Test
The purpose of the P3H1 Gene Osteogenesis Imperfecta Type 8 NGS Genetic Test is to identify mutation...
OSTM1 Gene Osteopetrosis, autosomal recessive type 5 NGS Genetic Test
The purpose of the OSTM1 Gene Osteopetrosis NGS Genetic Test is to detect mutations in the OSTM1 gen...
CA2 Gene Osteopetrosis, autosomal recessive type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the CA2 gene associated with autosomal recessive...
AMER1 Gene Osteopathia striata with cranial sclerosis NGS Genetic Test
The purpose of this test is to detect mutations in the AMER1 gene associated with Osteopathia Striat...
IL1RN Gene Osteomyelitis, sterile multifocal, with periostitis and pustulosis NGS Genetic Test
The purpose of this test is to identify mutations in the IL1RN gene that cause sterile multifocal os...
TCIRG1 Gene Osteopetrosis, autosomal recessive type 1 NGS Genetic Test
To diagnose osteopetrosis, autosomal recessive type 1, by identifying pathogenic mutations in the TC...
SNX10 Gene Osteopetrosis of infancy, malignant NGS Genetic Test
The purpose of the SNX10 Gene Osteopetrosis of Infancy NGS Genetic Test is to diagnose mutations in...
TNFSF11 Gene Osteopetrosis, autosomal recessive type 2 NGS Genetic Test
The purpose of the TNFSF11 Gene Osteopetrosis NGS Genetic Test is to diagnose autosomal recessive ty...
PLEKHM1 Gene Osteopetrosis, autosomal recessive type 6 NGS Genetic Test
The purpose of this test is to identify mutations in the PLEKHM1 gene that cause autosomal recessive...
PPIB Gene Osteogenesis imperfecta type 9 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 9 by detecting pathogenic mutations in the PPIB gene using...
CRTAP Gene Osteogenesis imperfecta type 7 NGS Genetic Test
The purpose of this test is to detect mutations in the CRTAP gene to confirm a diagnosis of Osteogen...
TNFRSF11A Gene Osteolysis, familial expansile NGS Genetic Test
To detect mutations in the TNFRSF11A gene for confirming diagnosis of familial expansile osteolysis,...
CLCN7 Gene Osteopetrosis, autosomal dominant type 1 NGS Genetic Test
To diagnose autosomal dominant type 1 osteopetrosis caused by CLCN7 gene mutations, enabling early i...
PLOD2 Gene Osteogenesis imperfecta with congenital joint contractures NGS Genetic Test
The purpose of the PLOD2 Gene Osteogenesis Imperfecta with Congenital Joint Contractures NGS Genetic...
VDR Gene Rickets, vitamin D-resistant, type 2A NGS Genetic Test
To diagnose vitamin D-resistant rickets type 2A by detecting mutations in the VDR gene using next-ge...
CYP27B1 Gene Rickets, vitamin D dependent, type 1 NGS Genetic Test
To identify mutations in the CYP27B1 gene for accurate diagnosis of vitamin D-dependent rickets type...
FLNB Gene Spondylocarpotarsal synostosis syndrome NGS Genetic Test
To identify mutations in the FLNB gene for accurate diagnosis of Spondylocarpotarsal synostosis synd...
DYM Gene Smith-McCort dysplasia NGS Genetic Test
To identify pathogenic mutations in the DYM gene for the diagnosis of Smith-McCort dysplasia, aiding...
DLL3 Gene Spondylocostal dysostosis, autosomal recessive type 1 NGS Genetic Test
To identify mutations in the DLL3 gene for accurate diagnosis of Spondylocostal dysostosis, autosoma...
CLCN5 Gene Hypophosphatemic rickets NGS Genetic Test
To diagnose CLCN5 gene mutations causing hypophosphatemic rickets.
LBR Gene Greenberg skeletal dysplasia NGS Genetic Test
To detect mutations in the LBR gene associated with Greenberg skeletal dysplasia for accurate diagno...
Achondroplasia (FGFR3 Full Gene Sequence Analysis)
To confirm a diagnosis of achondroplasia, identify carriers of FGFR3 mutations, and support prenatal...
Frozen-1
The purpose of the Frozen-1 genetic test is to identify genetic variations that may increase the ris...
Osteogenesis Imperfecta Gene Panel
The purpose of the Osteogenesis Imperfecta Gene Panel is to provide accurate genetic diagnosis of OI...
Abnormal Mineralization Panel NGS Genetic Test
To identify genetic mutations in genes associated with abnormal mineralization disorders, aiding in...
Connective Tissue and Related disorders Panel NGS Genetic Test
To diagnose connective tissue disorders by identifying genetic mutations in genes associated with co...
TRIP11 Gene Achondrogenesis type 1A NGS Genetic Test
The purpose of the TRIP11 Gene Achondrogenesis Type 1A NGS Genetic Test is to diagnose Achondrogenes...
COL2A1 Gene Achondrogenesis type 2 NGS Genetic Test
To identify mutations in the COL2A1 gene that cause achondrogenesis type 2, aiding in diagnosis, gen...
FGFR3 Gene Achondroplasia NGS Genetic Test
To detect mutations in the FGFR3 gene for diagnosis of Achondroplasia and carrier screening.
SLC26A2 Gene Achondrogenesis type 1B NGS Genetic Test
The purpose of this test is to identify mutations in the SLC26A2 gene to confirm a diagnosis of Acho...
PDE4D Gene Acrodysostosis 2 NGS Genetic Test
To identify mutations in the PDE4D gene for diagnosis of Acrodysostosis 2, guiding clinical manageme...
SF3B4 Gene Acrofacial dysostosis 1, Nager type NGS Genetic Test
To identify mutations in the SF3B4 gene for diagnosis of Acrofacial dysostosis 1, Nager type, carrie...
TPM2 Gene Arthrogryposis, distal, type 1A NGS Genetic Test
To detect mutations in the TPM2 gene that cause Arthrogryposis, distal, type 1A, aiding in diagnosis...
MYH3 Gene Arthrogryposis, distal, type 2B NGS Genetic Test
The purpose of this test is to diagnose Arthrogryposis, distal, type 2B by detecting pathogenic muta...
MYBPC1 Gene Arthrogryposis, distal, type 1B NGS Genetic Test
The purpose of this test is to detect pathogenic mutations in the MYBPC1 gene that cause distal arth...
COL2A1 Gene Avascular necrosis of the femoral head, primary NGS Genetic Test
To identify pathogenic mutations in the COL2A1 gene associated with avascular necrosis of the femora...
FGFR2 Gene Beare-Stevenson cutis gyrata syndrome NGS Genetic Test
To detect mutations in the FGFR2 gene associated with Beare-Stevenson Cutis Gyrata Syndrome for diag...
FGFR2 Gene Bent bone dysplasia syndrome NGS Genetic Test
The purpose of the FGFR2 Gene Bent Bone Dysplasia Syndrome NGS Genetic Test is to accurately diagnos...
PLS3 Gene Bone mineral density QTL18, osteoporosis NGS Genetic Test
The purpose of the PLS3 Gene Osteoporosis NGS Genetic Test is to identify genetic variants in the PL...
FBN2 Gene Contractural arachnodactyly, congenital NGS Genetic Test
To detect pathogenic mutations in the FBN2 gene that cause congenital contractural arachnodactyly, e...
COL2A1 Gene Czech dysplasia NGS Genetic Test
The purpose of this test is to diagnose Czech dysplasia by identifying pathogenic mutations in the C...
HSPG2 Gene Dyssegmental dysplasia, Silverman-Handmaker type NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the HSPG2 gene associated with dysse...
COL5A1 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test
The purpose of the COL5A1 Gene Ehlers-Danlos Syndrome Type 1/2 NGS Genetic Test is to detect mutatio...
COL3A1 Gene Ehlers-Danlos syndrome type 3 NGS Genetic Test
To detect pathogenic mutations in the COL3A1 gene for the diagnosis of Ehlers-Danlos syndrome type 3...
COL5A2 Gene Ehlers-Danlos syndrome type 1/2 NGS Genetic Test
To diagnose mutations in the COL5A2 gene causing Ehlers-Danlos Syndrome Type 1/2 for accurate clinic...
COL3A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test
The purpose of this test is to diagnose vascular Ehlers-Danlos syndrome by detecting mutations in th...
PLOD1 Gene Ehlers-Danlos syndrome type 6 NGS Genetic Test
The purpose of this test is to identify mutations in the PLOD1 gene to diagnose Ehlers-Danlos Syndro...
COL5A1 Gene Ehlers-Danlos syndrome type 4 NGS Genetic Test
To detect pathogenic mutations in the COL5A1 gene for definitive diagnosis of Ehlers-Danlos Syndrome...
COL1A1 Gene Ehlers-Danlos syndrome type 7A NGS Genetic Test
To identify mutations in the COL1A1 gene for diagnosis of Ehlers-Danlos syndrome type 7A, aiding in...
CHST14 Gene Ehlers-Danlos syndrome, musculocontractural type 1 NGS Genetic Test
To diagnose Ehlers-Danlos syndrome, musculocontractural type 1 by detecting pathogenic mutations in...
DSE Gene Ehlers-Danlos syndrome, musculocontractural type 2 NGS Genetic Test
The purpose of this test is to detect mutations in the DSE gene using Next-Generation Sequencing (NG...
B4GALT7 Gene Ehlers-Danlos syndrome, progeroid type 1 NGS Genetic Test
To diagnose Ehlers-Danlos syndrome, progeroid type 1 by detecting pathogenic mutations in the B4GALT...
EXT2 Gene Exostoses, multiple, type 2 NGS Genetic Test
To identify mutations in the EXT2 gene for accurate diagnosis of hereditary multiple exostoses type...
EXT1 Gene Exostoses, multiple, type 1 NGS Genetic Test
To identify mutations in the EXT1 gene that cause hereditary multiple exostoses type 1, aiding in di...
COL11A2 Gene Fibrochondrogenesis 2 NGS Genetic Test
To detect mutations in the COL11A2 gene that cause Fibrochondrogenesis 2, aiding in diagnosis, carri...
ANO5 Gene Gnathodiaphyseal dysplasia NGS Genetic Test
To diagnose Gnathodiaphyseal dysplasia by detecting pathogenic mutations in the ANO5 gene using next...
ADAMTSL2 Gene Geleophysic dysplasia type 1 NGS Genetic Test
To diagnose Geleophysic dysplasia type 1 by identifying mutations in the ADAMTSL2 gene and to identi...
FAM111A Gene Gracile bone dysplasia NGS Genetic Test
To identify mutations in the FAM111A gene for diagnosis of gracile bone dysplasia, aiding in clinica...
LBR Gene Greenberg skeletal dysplasia NGS Genetic Test
To diagnose Greenberg skeletal dysplasia by identifying pathogenic mutations in the LBR gene using n...
ANTXR2 Gene Hyaline fibromatosis syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the ANTXR2 gene to confirm a diagnos...
HPGD Gene Hypertrophic osteoarthropathy type 1 NGS Genetic Test
To diagnose hypertrophic osteoarthropathy type 1 by analyzing the HPGD gene for mutations using NGS...
FGFR3 Gene Hypochondroplasia NGS Genetic Test
To identify pathogenic mutations in the FGFR3 gene causing hypochondroplasia for accurate diagnosis,...
SLC34A3 Gene Hypophosphatemic rickets with hypercalciuria NGS Genetic Test
To identify mutations in the SLC34A3 gene responsible for hypophosphatemic rickets with hypercalciur...
FGF23 Gene Hypophosphatemic rickets, autosomal dominant NGS Genetic Test
The purpose of this test is to detect mutations in the FGF23 gene to confirm a diagnosis of autosoma...
ENPP1 Gene Hypophosphatemic rickets, autosomal recessive type 2 NGS Genetic Test
To identify pathogenic mutations in the ENPP1 gene for accurate diagnosis of hypophosphatemic ricket...
PHEX Gene Hypophosphatemic rickets, X-linked NGS Genetic Test
To detect pathogenic mutations in the PHEX gene for definitive diagnosis of X-linked hypophosphatemi...
COL2A1 Gene Legg-Calve-Perthes disease NGS Genetic Test
To identify mutations in the COL2A1 gene associated with Legg-Calve-Perthes disease for accurate dia...
TGFBR1 Gene Loeys-Dietz syndrome type 1A NGS Genetic Test
The purpose of this test is to detect mutations in the TGFBR1 gene that cause Loeys-Dietz Syndrome T...
TGFBR2 Gene Loeys-Dietz syndrome type 1B NGS Genetic Test
The purpose of this test is to detect mutations in the TGFBR2 gene to confirm a diagnosis of Loeys-D...
MAFB Gene Multicentric carpotarsal osteolysis syndrome NGS Genetic Test
To diagnose Multicentric Carpotarsal Osteolysis Syndrome by detecting mutations in the MAFB gene usi...
GPC6 Gene Omodysplasia type 1 NGS Genetic Test
To diagnose Omodysplasia Type 1 by detecting mutations in the GPC6 gene using Next-Generation Sequen...
COL2A1 Gene Osteoarthritis with mild chondrodysplasia NGS Genetic Test
The purpose of this test is to detect pathogenic variants in the COL2A1 gene that cause osteoarthrit...
COL1A1 Gene Osteogenesis imperfecta NGS Genetic Test
To identify mutations in the COL1A1 gene for the diagnosis of Osteogenesis Imperfecta, enabling earl...
CSF1 Gene Osteogenesis and dental anomalies, CSF1 related NGS Genetic Test
To diagnose mutations in the CSF1 gene that cause osteogenesis and dental anomalies, enabling accura...
COL1A2 Gene Osteogenesis imperfecta NGS Genetic Test
To identify mutations in the COL1A2 gene for accurate diagnosis of Osteogenesis Imperfecta, aiding i...
SERPINH1 Gene Osteogenesis imperfecta type 10 NGS Genetic Test
To identify mutations in the SERPINH1 gene for the diagnosis of Osteogenesis Imperfecta Type 10, aid...
FKBP10 Gene Osteogenesis imperfecta type 11 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 11 by detecting mutations in the FKBP10 gene using NGS tech...
SP7 Gene Osteogenesis imperfecta type 12 NGS Genetic Test
The purpose of the SP7 Gene Osteogenesis Imperfecta Type 12 NGS Genetic Test is to diagnose OI Type...
BMP1 Gene Osteogenesis imperfecta type 13 NGS Genetic Test
To detect mutations in the BMP1 gene for the diagnosis of Osteogenesis Imperfecta Type 13, enabling...
IFITM5 Gene Osteogenesis imperfecta type 5 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 5 by detecting mutations in the IFITM5 gene using NGS techn...
TMEM38B Gene Osteogenesis imperfecta type 14 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 14 caused by TMEM38B gene mutations, enabling accurate mana...
WNT1 Gene Osteogenesis imperfecta type 15 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 15 by identifying pathogenic mutations in the WNT1 gene usi...
SERPINF1 Gene Osteogenesis imperfecta type 6 NGS Genetic Test
To diagnose Osteogenesis Imperfecta Type 6 by identifying mutations in the SERPINF1 gene using NGS t...
TNFRSF11A Gene Osteopetrosis, autosomal recessive type 7 NGS Genetic Test
The purpose of this test is to identify mutations in the TNFRSF11A gene that cause autosomal recessi...
LRP5 Gene Osteoporosis pseudoglioma syndrome NGS Genetic Test
The purpose of the LRP5 Gene OPPG NGS Genetic Test is to identify pathogenic mutations in the LRP5 g...
SQSTM1 Gene Paget disease of bone NGS Genetic Test
To identify mutations in the SQSTM1 gene that cause Paget disease of bone, aiding in diagnosis, risk...
TNFRSF11B Gene Paget disease, juvenile NGS Genetic Test
To identify mutations in the TNFRSF11B gene that are associated with juvenile Paget disease, aiding...
COMP Gene Pseudoachondroplasia NGS Genetic Test
To diagnose pseudoachondroplasia by detecting pathogenic mutations in the COMP gene using NGS techno...
CTSK Gene Pycnodysostosis NGS Genetic Test
To diagnose Pycnodysostosis by detecting pathogenic mutations in the CTSK gene using Next-Generation...
FAM20C Gene Raine syndrome NGS Genetic Test
The purpose of this test is to identify mutations in the FAM20C gene associated with Raine Syndrome,...
B3GALT6 Gene Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures NGS Genetic Test
To diagnose mutations in the B3GALT6 gene associated with Spondyloepimetaphyseal dysplasia with join...
DDR2 Gene Spondylometaepiphyseal dysplasia, short limb-hand type NGS Genetic Test
The purpose of the DDR2 Gene SMED-SL NGS Genetic Test is to identify mutations in the DDR2 gene that...
CHST3 Gene Spondyloepiphyseal dysplasia with congenital joint dislocations NGS Genetic Test
To detect pathogenic variants in the CHST3 gene for the diagnosis of spondyloepiphyseal dysplasia wi...
LFNG Gene Spondylocostal dysostosis, autosomal recessive type 3 NGS Genetic Test
The purpose of this test is to detect mutations in the LFNG gene that cause autosomal recessive type...
MATN3 Gene Spondyloepimetaphyseal dysplasia, MATN3 related NGS Genetic Test
To diagnose Spondyloepimetaphyseal dysplasia related to MATN3 gene mutations using NGS technology fo...
FLNA Gene Terminal osseous dysplasis NGS Genetic Test
To diagnose Terminal Osseous Dysplasia by identifying mutations in the FLNA gene using NGS technolog...
SOST Gene Van Buchem disease NGS Genetic Test
To diagnose Van Buchem Disease by identifying mutations in the SOST gene using NGS technology.
MMP14 Gene Winchester Syndrome NGS Genetic Test
To diagnose Winchester syndrome by identifying pathogenic mutations in the MMP14 gene using NGS tech...
ROR2 Gene Brachydactyly type B1 NGS Genetic Test
To identify pathogenic mutations in the ROR2 gene for diagnosis of brachydactyly type B1 and to guid...
COL11A1 Gene Fibrochondrogenesis type 1 NGS Genetic Test
The purpose of this test is to diagnose Fibrochondrogenesis type 1 by detecting pathogenic mutations...
FBN1 Gene Marfan lipodystrophy syndrome NGS Genetic Test
The primary purpose of this NGS genetic test is to confirm a clinical diagnosis of Marfan lipodystro...
FBN1 Gene MASS syndrome NGS Genetic Test
The purpose of this test is to detect mutations in the FBN1 gene that are associated with MASS syndr...
MMP9 Gene Metaphyseal anadysplasia type 2 NGS Genetic Test
The purpose of this test is to confirm a clinical diagnosis of Metaphyseal anadysplasia type 2 by id...
SOST Gene Sclerosteosis type 1 NGS Genetic Test
The purpose of this test is to detect mutations in the SOST gene that cause sclerosteosis type 1. It...
CBFB Gene Skeletal abnormalities, CBFB related NGS Genetic Test
The purpose of this NGS genetic test is to identify pathogenic mutations in the CBFB gene and other...
COL2A1 Gene SMED Strudwick type NGS Genetic Test
The primary purpose of this test is to confirm or rule out a diagnosis of SMED Strudwick type skelet...
COL2A1 Gene Spondyloperipheral dysplasia NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the COL2A1 gene that cause Spondylop...
FBN1 Gene Stiff skin syndrome NGS Genetic Test
The purpose of this test is to identify pathogenic mutations in the FBN1 gene that cause Stiff Skin...
Frozen-3
The primary purpose of the Frozen-3 test is to identify genetic variations that may increase the lik...