Molecular Tests

The list below shows some of the molecular tests used to confirm a clinical-radiographic diagnosis of genetic skeletal disorder. We also routinely use a clinical exome sequencing approach using the Illumina TruSight system as well as a more extended exome sequencing approach based on the Thermofisher Ion AmpliSeq Exome S5 system to alow for the analysis of "rarer" and novel genes.

Please note that we usually ask to review the clinical and radiographic material before accepting a sample for analysis. We are a non-commercial lab but we need to recover our costs (for tests not done as research). For European countries, we can accept E-112 forms. For turnaround time, pricing, the availability of other tests, or further information, please contact Dr. Lauréane Mittaz-Crettol or Dr. Belinda Xavier (see page "Our Team").

 

Genes for Connective Tissue, Osteogenesis Imperfecta and Skeletal Dysplasias

 

   

 

   

 ALDH18A1     

Cutis laxa, 3A (PYCS)      

ACP5

Spondyloenchondrodysplasia

ADAMTS10

Weill-Marchesani 1

ADAMTSL2

Geleophysic dysplasia

ALPL

Hypophosphatasia

ANTXR2

Hyaline fibromatosis S.

ATP6V0A2 

Cutis laxa, 2A

B3GALT6

SEMD-JL Beighton

B3GAT3

Larsen-like, recessive

B4GALT7

EDS, progeroid

BMP1

OI, recessive

CANT1 

Desbuquois

CHST14

EDS, contractural

CHST3

Larsen, AR

COL10A1 

Metaphyseal dysplasia Schmid

COL11A1

Stickler 2

COL11A2

Stickler 3, OSMED

COL1A1

OI, dominant

COL1A2

OI, dominant

COL2A1

SEDC group

COL3A1

EDS, vascular

COL5A1

EDS, classical

COL5A2

EDS, classical

COL9A1

MED, dominant

COL9A2

MED, dominant

COL9A3

MED, dominant

COMP

Pseudoachondroplasia

CRTAP

OI, recessive

CUL7

3-M syndrome

DLL3 

Spondylocostal dysplasia 1

DYM

Dyggve-Melchior-Clausen dysplasia

EXT1

Exostoses, multiple, 1  

EXT2 

Exostoses, multiple, 2

EXTL3

Spondylo-epi-metaphyseal dysplasia with immune deficiency and developmental delay

FAM111A

 Kenny-Caffey syndrome, Osteocraniostenosis

FBN1

Acromicric dysplasia

FBN2

Arachnodactyly, cong.

FGFR3 

FGFR3 dysplasia group

FKBP10

Bruck syndrome 1

FKBP14

EDS, kyphoscoliotic

FLNA

Filamin A dysplasia group

FLNB

Larsen, dominant

GDF5

Grebe dysplasia, brachydactyly

GNAS

Fibrous dysplasia

GORAB

Geroderma osteodysplasticum

GPC6

Omodysplasia

HES7

Spondylocostal dysplasia 4

HSPG2

Dyssegmental dysplasia

IFITM5

OI type 5, dominant

IMPAD1

gPAPP dysplasia

KIF22

SEMD-JL, leptodactylic

LEPRE1

OI, recessive

LFNG 

Spondylocostal dysplasia 3

LRP5

Osteoporosis-pseudoglioma syndrome

MAFB

Multicentric carpotarsal osteolysis

MATN3

MED, dominant

MESP2

Spondylocostal dysplasia 2

MMP2

Torg-Winchester syndrome

NANS

Spondylo-epi-metaphyseal dysplasia with intellectual disability, NANS type

NPR2

Acromesomelic dysplasia, Maroteaux

OBSL1

3-M syndrome

PAPSS2  

SEMD

PDE4D

Acrodysostosis 2

PHEX

Hypophosphatemic rickets

PLOD1

EDS, kyphoscoliotic

PLOD2

Bruck syndrome 2

PPIB

OI, recessive

PRKAR1A

Acrodysostosis 1

PYCR1

Cutis laxa, 2B

RMRP

Cartilage-Hair-Hypoplasia

ROR2

Robinow syndrome, recessive

RUNX2 

Cleidocranial dysplasia

SBDS

Shwachman-Bodian-Diamond syndrome

SERPINF1

OI, recessive

SERPINH1

OI, recessive

SLC26A2

Diastrophic dysplasia, recessive MED, atelosteogenesis 2, achondrogenesis 1B

SLC35D1

Schneckenbecken dysplasia

SLC39A13

EDS, spondylocheirodysplastic type

SMAD3

Loeys-Dietz, 1C

SOX9

Campomelic dysplasia

SP7

OI, recessive

TBX6

Spondylocostal dysplasia 5

TGFBR1

Loeys-Dietz, 1

TGFBR2

Loeys-Dietz, 2

TNXB

EDS, hypermobile

TRAPPC2

SED tarda, X-linked

TRIP11

Achondrogenesis  1A

TRPV4

Metatropic dysplasia

WISP3

Progressive pseudorheumatoid dysplasia

XYLT1

Desbuquois dysplasia type 2