Short Stature NGS Panel

  • Panel Description
  • Test Description
  • CPT Codes

Panel Description

Pituitary hormone deficiency
Noonan syndrome
3-M syndrome
Kabuki syndrome
Cornelia de Lange syndrome
Growth hormone insensitivity syndrome
Isolated growth hormone deficiency
Bloom syndrome
Nijmegen breakage syndrome
Meier-Gorlin syndrome

The Fulgent Short Stature NGS Panel includes genes that are associated with a wide array of etiologies for short stature that includes endocrine abnormalities, skeletal abnormalities resulting in disproportionate short stature, isolated proportionate short stature, and syndromes that include short stature. Many of the syndromic forms of short stature include microcephaly and varying levels of developmental delay.
This panel may be appropriate for individuals with a personal or family history of short stature, with or without additional clinical features.
Genetic confirmation of a diagnosis for short stature may:
  • Establish or confirm the appropriate diagnosis and provide prognostic information
  • Identify risks for additional health-related symptoms
  • Result in more personalized treatment and symptom management decision-making
  • Inform family members about their own risk factors
  • Connect patients to relevant resources & support
  • Provide options for family planning

Test Description

Print
  • Sequencing
  • Del/Dup
  • Rush / STAT
  • Exclude VUS
  • MCC
  • Duo/Trio
3-5 weeks
Call for details
ACAN, ACTB, ACTG1, ALMS1, AMMECR1, ANKRD11, ARCN1, ARID1A, ARID1B, ATR, ATRIP, B3GAT3, BLM, BMP2, BRAF, BRF1, BTK, CBL, CCDC8, CDC45, CDC6, CDT1, CENPJ, CEP152, CEP63, COL10A1, COL11A1, COL11A2, COL1A1, COL27A1, COL2A1, COL9A1, COL9A2, COL9A3, COMP, CREBBP, CRIPT, CUL7, DHCR7, DNA2, DONSON, DVL1, EP300, ERCC6, ERCC8, EVC, EVC2, FANCA, FANCC, FANCG, FBN1, FGD1, FGFR3, FN1, GH1, GHR, GHRHR, GHSR, GLI2, GLI3, GNAS, HDAC8, HESX1, HRAS, HSPG2, IDUA, IGF1, IGF1R, IGF2, IGFALS, IHH, INSR, KDM6A, KMT2D, KRAS, LARP7, LFNG, LHX3, LHX4, LIG4, LMNA, LZTR1, MAP2K1, MAP2K2, MATN3, MRAS, NBN, NF1, NIPBL, NOTCH2, NPPC, NRAS, NSMCE2, OBSL1, ORC1, ORC4, ORC6, OSGEP, OTX2, PCNT, PDE4D, PIK3R1, PISD, PLK4, POC1A, POP1, POU1F1, PPP1CB, PPP3CA, PRKAR1A, PRMT7, PROP1, PTH1R, PTPN11, PUF60, RAD21, RAF1, RALA, RASA2, RBBP8, RIT1, RNU4ATAC, ROR2, RPS6KA3, RRAS, RTTN, SGMS2, SHOC2, SHOX, SMARCA2, SMARCA4, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SOS1, SOS2, SOX11, SOX2, SOX3, SOX9, SPRED1, SRCAP, STAT5B, TALDO1, TBX2, TBX3, TOP3A, TRIM37, TRMT10A, WNT5A, XRCC4 ( 153 genes )
96% at 20x
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
All sequencing technologies have limitations. This analysis is performed by Next Generation Sequencing (NGS) and is designed to examine coding regions and splicing junctions. Although next generation sequencing technologies and our bioinformatics analysis significantly reduce the contribution of pseudogene sequences or other highly-homologous sequences, these may still occasionally interfere with the technical ability of the assay to identify pathogenic variant alleles in both sequencing and deletion/duplication analyses. Sanger sequencing is used to confirm variants with low quality scores and to meet coverage standards. If ordered, deletion/duplication analysis can identify alterations of genomic regions which include one whole gene (buccal swab specimens and whole blood specimens) and are two or more contiguous exons in size (whole blood specimens only); single exon deletions or duplications may occasionally be identified, but are not routinely detected by this test. Identified putative deletions or duplications are confirmed by an orthogonal method (qPCR or MLPA). This assay will not detect certain types of genomic alterations which may cause disease such as, but not limited to, translocations or inversions, repeat expansions (eg. trinucleotides or hexanucleotides), alterations in most regulatory regions (promoter regions) or deep intronic regions (greater than 20bp from an exon). This assay is not designed or validated for the detection of somatic mosaicism or somatic mutations.

Gene Notes
ACAN Due to long stretches of tandem repeats in the ACAN gene, our current testing method is not able to reliably detect variants in exon 12 of ACAN.
SOX3 The current testing method does not assess trinucleotide repeat expansions in this gene.
CPT Code 81407, 81479x2

NOTE:  The CPT codes listed on the website are in accordance with Current Procedural Terminology, a publication of the American Medical Association. CPT codes are provided here for the convenience of our clients. Clients who bill for services should make the final decision on which codes to use.