Test Code: PNL242
Skeletal dysplasias, classic (59 Genes)
Rare diseases
Skeletal dysplasias are a diverse group of over 450 inherited disorders affecting bone and cartilage development, leading to abnormalities in bone shape, size, and structure. Our Skeletal Dysplasia panel analyses 59 genes associated with a broad spectrum of these conditions, ranging from mild short stature to severe, prenatally lethal skeletal abnormalities
Sample Type
3 ml peripheral blood in EDTA (purple/pink top) tube
Turnaround Time
21 - 28 days
Courier Requirements
Ship overnight at room temperature to receive next day. Do not refrigerate or freeze. Maintain specimen at room temperature.
Pricing
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Genes Analyzed
59 genes
ACP5
AGPS
ALPL
ARSE
B3GAT3
BMPR1B
BMP2
C21orf2
CANT1
CHST3
COL10A1
COL11A1
COL11A2
COL2A1
COL9A1
COL9A2
COL9A3
COMP
CRTAP
DDR2
DYM
EBP
EIF2AK3
FGFR3
FLNB
GALNS
GDF5
GLB1
GPX4
HSPG2
IHH
IMPAD1
KIF22
LBR
P3H1
LIFR
MATN3
MMP13
MMP9
NEK1
NKX3-2
NOG
NSDHL
PAPSS2
PCYT1A
PITX1
PTH1R
RMRP
RNU4ATAC
ROR2
RUNX2
SLC26A2
SMARCAL1
SOX9
TRAPPC2
TRIP11
TRPV4
WISP3
XYLT1
Methodology
All coding exons and flanking intronic regions are enriched using capture-based target enrichment and sequenced on an NGS platform.
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