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 |