|
Test Code
|
|
5432
|
|
Test Name
|
|
Skeletal Skeletal Dysplasia And Ciliopathy NGS Panel
|
|
CPT Codes
|
|
81479
|
|
Expected Turnaround Time
|
|
Typically 2 to 4 weeks from receipt of a sample in the laboratory. All cases involving ongoing pregnancies will be expedited.
|
|
Clinical Utility
|
|
Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure appropriate treatment and establish recurrence risk for family members.
|
|
Specimen and Container Info
|
Non-Prenatal Specimens Preferred/Alternate | Specimen Type | Containers | Volume | Preferred Specimen Type | Whole Blood | Lavender Top (EDTA) | 3 mL | Alternate Specimen Type | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. | Alternate Specimen Type | Fibroblasts | T-25 Flasks | 2 confluent T-25 flasks, filled to capacity | Alternate Specimen Type | Saliva (Whole blood is recommended for CNV) | DNA Self-Collection Kit or Oragene Saliva Collection Kit for Young Children | Follow kit instructions (www.dnagenotek.com) |
Prenatal Specimens Either specimen type below is acceptable. Specimen Type | Containers | Volume | Cultured cells | T-25 Flasks | 2 confluent T-25 flasks derived from amnio or CVS samples. | Genomic DNA | 1.5 mL Tube | 3 µg (at a concentration of at least 30 ng/µl), preferably in TE solution. |
NOTE: For specimens from outside of North America, the preferred specimen type is Genomic DNA. HNL Genomics does not recommend shipping whole blood or cultured cells from any location other than the United States, Canada, or Mexico. |
|
Transport Instructions
|
- Transport at room temperature within 24 hours.
- If the specimen cannot be transported to the lab within 24 hours, refrigerate for up to 72 hours.
- Do not freeze or expose to extreme temperatures, refrigerate for up to 72 hours if cannot be transported to lab within 24 hours.
|
|
Stability Requirements
|
|
Room Temperature
|
|
Refrigerated
|
|
|
Causes for Rejection
|
- Improperly labeled specimen (minimum of two patient identifiers)
- Inappropriate specimen type
- Incomplete or incorrect test request form
- Insufficient volume
- Specimen has leaked in transit
- Specimen without a test order
|
|
Methodology
|
|
Next Generation Sequencing and Copy Number Variation Analysis
|
|
Performing Location
|
|
Genomics - Snowdrift
|
|
Description
|
The Skeletal dysplasia and Skeletal Ciliopathy panel is designed to detect mutations in genes responsible for lethal or severe skeletal dysplasias. The genes constituting this panel have been selected with input from several clinical geneticists with expertise in the skeletal dysplasia field. The Skeletal dysplasia and skeletal ciliopathy NGS panel consists of fifty-three genes: ALPL, ARSL, C21orf2, C2CD3, CEP120, COL1A1, COL1A2, COL2A1, COL10A1, COL11A1, COL11A2, DDR2, DYNC2H1, DYNC2LI1, EBP, EVC, EVc2, FGFR3, FLNB, HSPG2, ICK, IFT43, IFT52, IFT80, IFT81, IFT122, IFT140, IFT172, INPPL1, KIAA0586, KIAA0753, LBR, LIFR, MMP9, MMP13, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TCTEX1D2, TRIP11, TRPV4, TTC21B, WDR19, WDR34, WDR35 and WDR60. Gene | Disorder | MIM | Inheritance | ALPL | Hypophosphatasia, adult Hypophosphatasia, childhood Hypophosphatasia, infantile | 146300 241510 241500 | AD / AR | ARSL | Chondrodysplasia punctata, X-linked recessive (CDPX1) | 302950 | XL | C21orf2 | Short-rib thoracic dysplasia, C21orf2 related Axial spondylometaphyseal dysplasia | - 602271 | AR AR | C2CD3 | Short-rib thoracic dysplasia, C2CD3 related | - | AR | CEP120 | Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13) | 616300 | AR | COL1A1 | Osteogenesis imperfecta, type I (OI1) Osteogenesis imperfecta, type II (OI2) Osteogenesis imperfecta, type III (OI3) Osteogenesis imperfecta, type IV (OI4) | 166200 166210 259420 166220 | AD | COL1A2 | Osteogenesis imperfecta, type II (OI2) Osteogenesis imperfecta, type III (OI3) Osteogenesis imperfecta, type IV (OI4) | 166210 259420 166220 | AD | COL2A1 | Achondrogenesis, type II (ACG2) and Hypochondrogenesis Platyspondylic skeletal dysplasia, Torrance type (PLSTD) Spondyloepiphyseal dysplasia congenita (SEDC) | 200610 151210 183900 | AD | COL10A1 | Metaphyseal chondrodysplasia, Schmid type (MCDS) | 156500 | AD | COL11A1 | Fibrochondrogenesis 1 (FBCG1) | 228520 | AR | COL11A2 | Fibrochondrogenesis 2 (FBCG2) Otospondylomegaepiphyseal dysplasia, autosomal dominant (OSMEDA) Otospondylomegaepiphyseal dysplasia, autosomal recessive (OSMEDB) | 614524 184840 215150 | AR / AD AR AR | DDR2 | Spondylometaepiphyseal dysplasia, short limb-hand type | 228520 | AR | DYNC2H1 | Short-rib thoracic dysplasia 3 with or without polydactyly (SRTD3) | 613091 | AR | DYNC2LI1 | Short-rib thoracic dysplasia 15 with or without polydactyly (SRTD15) | 617088 | AR | EBP | Chondrodysplasia punctata, X-linked dominant (CDPX2) | 302960 | XL | EVC | Ellis-van Creveld syndrome (EVC) Weyers acrofacial dysostosis (WAD) | 225500 193530 | AR AD | EVC2 | Ellis-van Creveld syndrome (EVC) Weyers acrofacial dysostosis (WAD) | 225500 193530 | AR AD | FGFR3 | Achondroplasia (ACH) Hypochondroplasia (HCH) Thanatophoric dysplasia, type I (TD1) Thanatophoric dysplasia, type II (TD2) | 100800 146000 187600 187601 | AD | FLNB | Atelosteogenesis, type I and III (AO1) Atelosteogenesis, type II (AO2) Boomerang dysplasia | 108720 108721 112310 | AD | HSPG2 | Dyssegmental dysplasia, Silvermann-Handmaker type (DDSH) Schwartz-Jampel syndrome, type 1 (SJS1) | 224410 255800 | AR | ICK | Short-rib thoracic dysplasia, ICK related | - | AR | IFT43 | Cranioectodermal dysplasia 3 (CED3) Short-rib thoracic dysplasia 18 with polydactyly (SRTD18) | 614099 617866 | AR | IFT52 | Short-rib thoracic dysplasia 16 with or without polydactyly (SRTD16) | 617102 | AR | IFT80 | Short-rib thoracic dysplasia 2 with or without polydactyly (SRTD2) | 611263 | AR | IFT81 | Short-rib thoracic dysplasia 19 with or without polydactyly (SRTD19) | 617895 | AR | IFT122 | Cranioectodermal dysplasia 1 (CED1) | 218330 | AR | IFT140 | Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9) | 266920 | AR | IFT172 | Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) | 615630 | AR | INPPL1 | Opsismodysplasia (OPSMD) | 258480 | AR | KIAA0586 | Short-rib thoracic dysplasia 14 with polydactyly (SRTD14) | 616546 | AR | KIAA0753 | Short-rib thoracic dysplasia, KIAA0753 related | - | AR | LBR | HEM skeletal dysplasia / Greenberg dysplasia (GRBGD) | 215140 | AR | LIFR | Stuve-Wiedemann syndrome / Schwartz-Jampel syndrome type 2 | 601559 | AR | MMP9 | Metaphyseal anadysplasia 2 (MANDP2) | 613073 | AR | MMP13 | Metaphyseal anadysplasia 1 (MANDP1) (Spondyloepimetaphyseal dysplasia, missouri type) Metaphyseal dysplasia, Spahr type (MDST) | 602111 250400 | AD AR | NEK1 | Short-rib thoracic dysplasia 6 with or without polydactyly (SRTD6) | 263520 | AR | NKX3-2 | Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) | 613330 | AR | NSDHL | Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD syndrome) | 308050 | XLD | PEX7 | Rhizomelic chondrodysplasia punctata, type 1 (RCDP1) | 215100 | AR | PTH1R | Metaphyseal chondrodysplasia, Murk Jansen type Chondrodysplasia, Blomstrand type (BOCD) | 156400 215045 | AD AR | RMRP | Anauxetic dysplasia (ANXD1) Cartilage-hair hypoplasia (CHH) Metaphyseal dysplasia without hypotrichosis (MDWH) | 607095 250250 250460 | AR | SBDS | Shwachman-Diamond syndrome 1 (SDS1) | 260400 | AR | SLC26A2 | Achondrogenesis, type IB (ACG1B) Atelosteogenesis, type II (AO2) Diastrophic dysplasia (DTD) | 600972 256050 222600 | AR | SLC35D1 | Schneckenbecken dysplasia (SHNKND) | 269250 | AR | SOX9 | Campomelic dysplasia | 114290 | AD | TCTEX1D2 | Short-rib thoracic dysplasia 17 with or without polydactyly (SRTD17) | 617405 | AR | TRIP11 | Achondrogenesis, type IA (ACG1A) | 200600 | AR | TRPV4 | Metatropic dysplasia Parastremmatic dwarfism | 156530 168400 | AD | TTC21B | Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) | 613819 | AR | WDR19 | Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) Cranioectodermal dysplasia 4 (CED4) | 614376 614378 | AR AR | WDR34 | Short-rib thoracic dysplasia 11 with or without polydactyly (SRTD11) | 615633 | AR | WDR35 | Cranioectodermal dysplasia 2 (CED2) Short-rib thoracic dysplasia 5 with or without polydactyly (SRTD5) | 613610 614091 | AR AR | WDR60 | Short-rib thoracic dysplasia 8 with or without polydactyly (SRTD8) | 615503 | AR |
|
|
Testing Schedule
|
|
Monday-Friday
|
|
Genes
|
|
ALPL, ARSL, C21orf2, C2CD3, CEP120, COL10A1, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, DDR2, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, FGFR3, FLNB, HSPG2, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, INPPL1, KIAA0586, KIAA0753, LBR, LIFR, MMP13, MMP9, NEK1, NKX3-2, NSDHL, PEX7, PTH1R, RMRP, SBDS, SLC26A2, SLC35D1, SOX9, TCTEX1D2, TRIP11, TRPV4, TTC21B, WDR19, WDR34, WDR35, WDR60
|
|
Disease Group
|
|
Skeletal Disorders
|