Next Generation Sequencing Panels

 

Skeletal Dysplasia/Osteogenesis Imperfecta NGS Panel

  • Full sequencing of 33 genes associated with Skeletal Dysplasias and Osteogenesis Imperfecta
  • Comprehensive panel for diagnosis of 2nd trimester ultrasound findings of bone or cartilage abnormalities (e.g. shortened long bones, fractures, bowing, narrow chest/short ribs)
  • May also be ordered in cases of personal and/or family history
  • All coding exons plus 30 bp of flanking intron are sequenced with at least 20x coverage (typically >100x),  >98% analytic sensitivity, and >99% analytic specificity
  • Methodology allows for the detection of point mutations and indels up to 38 bp
  • 2-4 week turnaround time
  • COL1A1 and COL1A2 deletion analysis available as a concurrent or reflex test
GeneLocationInheritance Transcript Associated Conditions
AGPS 2q31.2
AR NM_003659 Rhizomelic chondrodysplasia punctata, type 3
AGPS2q31.2AR NM_003659"Rhizomelic chondrodysplasia punctata, type 3"
ALPL1p36.1-p34 AD/ARNM_000478Hypophosphatasia; Odontohypophosphatasia
BMP18p21.3AR NM_006129Osteogenesis imperfecta type II
COL11A11p21.1AD/ARNM_001854"Stickler syndrome, type ll; Marshall syndrome; Fibrochondrogenesis 1"
COL1A117q21.33ADNM_000088"Osteogenesis imperfecta type I, II, Ill, and IV; Caffey Disease; Ehlers-Danlos Syndrome"
COL1A27q21.3ADNM_000089"Osteogenesis imperfecta type I, II, Ill, and IV; Ehlers-Danlos Syndrome (AR/AD)"
COL2A1 12q13.11-q13.2 AD/ARNM_033150"Achondrogenesis type ll; Hypochondrogenesis; Spondyloepiphyseal dysplasia congenita; Spondyloperipheral dysplasia; Spondyloepimetaphyseal dysplasia, Strudwick type; Platyspondylic skeletal dysplasia, Torrance type; Stickler syndrome"
CRTAP3p22.3ARNM_006371"Osteogenesis imperfecta type II, III and IV"
DYNC2H111q22.3 ARNM_001377Asphyxiating thoracic dystrophy (Jeune syndrome); short-rib thoracic dysplasia 3
ESCO28p21.1AR NM_001017420Roberts syndrome;SC phocomelia syndrome
EVC4p16.2AD/ARNM_153717Ellis-van Creveld syndrome; Weyers acrofacial dysostosis
EVC24p16.2AD/ARNM_147127Ellis-van Creveld syndrome; Weyers acrofacial dysostosis
FGFR18p11.23ADNM_023110Pfeiffer syndrome; Osteoglophonic dysplasia; Hartsfield syndrome; Kallmann syndrome
FGFR210q26AD NM_022970Crouzon syndrome; Apert syndrome; Pfeiffer syndrome; Beare-Stevenson syndrome; LADD syndrome; Jackson-Weiss syndrome; Craniosynostosis (nonspecific)
FGFR34p16.3ADNM_000142Achondroplasia; Hypochondroplasia; Muenke syndrome; Thanatophoric dysplasia;Crouzon syndrome with acanthosis nigricans; LADD syndrome; SADDAN
FKBP1017q21.2ARNM_021939Osteogenesis imperfecta type IV; Bruck Syndrome I
IFITM511p15.5ADNM_001025295 Osteogenesis imperfecta type V
IFT803q25.33ARNM_020800Asphyxiating thoracic dystrophy (Jeune syndrome); short-rib thoracic dysplasia 2
INPPL1 11q13.4ARNM_001567Opsismodysplasia
P3H1 (LEPRE1)1p34.2AR NM_022356Osteogenesis imperfecta type II and III
PAM1616p13.3ARNM_016069"Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type"
PEX76q23.3AR NM_000288"Rhizomelic chondrodysplasia punctata, type 1; Refsum disease"
PLOD23q24ARNM_182943Bruck Syndrome II
PPIB15q22.31ARNM_000942Osteogenesis imperfecta type II and III
ROR29q22.31AR NM_004560Robinow syndrome
SERPINF117p13.3ARNM_002615Osteogenesis imperfecta type III and IV
SERPINH111q13.5ARNM_001235Osteogenesis imperfecta type III
SLC26A2 (DTDST)5q32-q33.1ARNM_000112 Diastrophic dysplasia; Achondrogenesis type 1B; Atelosteogenesis type 2; Multiple epiphyseal dysplasia
SOX917q24.3-q25.1ADNM_000346 Campomelic dysplasia
SP712q13.13AR NM_152860Osteogenesis imperfecta type IV
TMEM38B 9q31.2ARNM_018112Osteogenesis imperfecta type IV
TWIST17p21.1ADNM_000474Saethre-Chotzen syndrome
WNT112q13.12AR/ADNM_005430Osteogenesis imperfecta type III and IV
 

Noonan Syndrome / RASopathies NGS Panel

  • Full sequencing of 12 genes associated with RASopathies: Noonan syndrome, Cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Noonan syndrome with multiple lentigines (NSML, formerly LEOPARD syndrome)
  • NS/RASopathy testing may be indicated after an increased nuchal translucency is identified on ultrasound, particularly when chromosome analysis or microarray is found to be normal.
  • All coding exons plus 30 bp of flanking intron are sequenced with at least 20x coverage (typically >100x),  >98% analytic sensitivity, and >99% analytic specificity
  • Methodology allows for the detection of point mutations and indels up to 38 bp
  • 2-4 week turnaround time
GeneTranscript
BRAFNM_004333
CBLNM_005188
HRASNM_005343
KRASNM_004985
MAP2K1NM_002755
MAP2K2NM_030662
NRASNM_002524
PTPN11NM_002834
RAF1NM_002880
RIT1NM_006912
SHOC2NM_007373
SOS1NM_005633