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Beacon 787-Expanded Carrier Screening Panel (Without X-linked Disorders)
Panel Description
The Beacon 787-Expanded Carrier Screening Panel (Without XL Disorders) is the largest pan-ethnic screening panel available. This panel analyzes genes for pathogenic variants known to cause autosomal recessive (AR) disorders. This comprehensive panel includes coverage of all autosomal recessive tier 3 genes included in the 2021 ACMG Practice Resource for screening for autosomal recessive and X-linked conditions during pregnancy and conception as well as additional conditions that may have severe presentations (cognitive or physical impairments), early childhood onset, or for which early intervention may be beneficial. This panel may be used to provide reproductive pairs with an extensive evaluation of their risk to have a child with a genetic condition. This panel is designed for individuals who do not want to be screened for X-linked disorders and is often used for screening male patients. For a version of this panel with XL disorders, visit: https://fulgentgenetics.com/Beacon-787-Expanded-Carrier-Screening-With-X-linked-Disorders.
Diseases targeted: >700 Autosomal Recessive Disorders
Our technology establishes Beacon as the most intensive carrier screening with the highest accuracy available.
- Sequence variants and small insertions/deletions: unless otherwise specified, whole gene sequencing (coding regions and adjacent intronic/splice regions) is performed with >99% of bases covered by at least 20 independent sequence reads (“20x”). Additionally, intronic and promoter mutations specified in ClinVar and the Human Gene Mutation Database (HGMD) are targeted with >98% sensitivity.
- Deletion/duplications (del/dup): copy number variants (also known as deletions/duplications, or del/dup for short) are detected using Fulgent’s sophisticated bioinformatic algorithm, CNVexonTM. Pathogenic variants found by this method are confirmed by Sanger sequencing, MLPA, or quantitative PCR (qPCR).
- Spinal Muscular Atrophy: copy number changes in the SMN1 gene is screened by NGS and confirmed by MLPA. Point mutations for spinal muscular atrophy are not detected due to high sequence homology.
- Pseudogenes/regions with high levels of homology: proprietary bioinformatics tools are employed to identify carrier mutations in disease genes (such as GBA for Gaucher disease, CYP21A2 for congenital adrenal hyperplasia, and HBA1/HBA2 for alpha thalassemia) which have highly similar inactive counterparts.
Reporting options: Only variants classified as “Pathogenic” or “Likely Pathogenic” using the ACMG guidelines for sequence variant interpretation will be reported.
Detection rate: A broad range of laboratory and computational tools are employed to ensure the highest detection rate. The analytical detection rate for all genes is >98%.
*If a condition is suspected in a patient, please contact Fulgent Genetics or a genetics professional about diagnostic testing for that disorder.
Test Description
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Order Options:
Turnaround Time:
2 weeks
Cost:
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Genes:
AAAS, ABCA12, ABCA3, ABCA4, ABCB11, ABCB4, ABCC8, ABCD4, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACOX1, ACSF3, ADA, ADAMTS2, ADGRG1, ADGRV1, ADK, AGA, AGL, AGPAT2, AGPS, AGXT, AHCY, AHI1, AIMP1, AIPL1, AIRE, AK2, AKR1D1, ALDH3A2, ALDH4A1, ALDH7A1, ALDOB, ALG1, ALG12, ALG3, ALG6, ALMS1, ALOX12B, ALOXE3, ALPL, AMH, AMHR2, AMN, AMPD2, AMT, ANO10, ANO5, ANTXR2, AP1S1, AP3B1, AP3D1, APOPT1, AQP2, ARG1, ARL13B, ARL6, ARSA, ARSB, ASL, ASNS, ASPA, ASS1, ATM, ATP13A2, ATP6V0A2, ATP6V0A4, ATP6V1B1, ATP6V1E1, ATP7B, ATP8B1, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCHE, BCKDHA, BCKDHB, BCS1L, BLM, BLOC1S3, BLOC1S6, BMP1, BMPER, BRIP1, BSND, BTD, C19orf12, C8orf37, CAD, CANT1, CAPN3, CASP14, CASQ2, CASR, CAVIN1, CBS, CC2D1A, CC2D2A, CCDC103, CCDC151, CCDC39, CCDC8, CCDC88C, CD247, CD3D, CD3E, CD3G, CD59, CD8A, CDAN1, CDCA7, CDH23, CEP104, CEP152, CEP290, CERKL, CERS3, CFTR, CHAT, CHMP1A, CHRNE, CHRNG, CHST6, CIB2, CIITA, CLCF1, CLCN1, CLCNKB, CLN3, CLN5, CLN6, CLN8, CLP1, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNTNAP2, COASY, COL11A2, COL17A1, COL27A1, COL4A3, COL4A4, COL7A1, COLQ, COQ4, CORO1A, COX10, COX15, COX20, COX6B1, CP, CPLANE1, CPS1, CPT1A, CPT2, CRADD, CRB1, CRLF1, CRTAP, CRYL1, CTC1, CTNS, CTSA, CTSC, CTSD, CTSF, CTSK, CUL7, CWC27, CYBA, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1B1, CYP21A2, CYP27A1, CYP27B1, CYP4F22, CYP7B1, DBT, DCAF17, DCLRE1C, DDB2, DDC, DDR2, DDX11, DGUOK, DHCR24, DHCR7, DHDDS, DLAT, DLD, DLL3, DNAH5, DNAI1, DNAI2, DNAL1, DNMT3B, DOCK8, DOK7, DOLK, DPYD, DTNBP1, DUOX2, DUOXA2, DYNC2H1, DYSF, EFEMP2, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELP1, EPB42, ERBB3, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, ESCO2, ETFA, ETFB, ETFDH, ETHE1, EVC, EVC2, EXOSC3, EYS, F11, F2, F5, F7, FA2H, FAH, FAM126A, FAM161A, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FBP1, FBXL4, FH, FKBP10, FKRP, FKTN, FMO3, FOLR1, FOXN1, FOXRED1, FRAS1, FREM2, FTCD, FUCA1, FXN, G6PC, G6PC3, GAA, GALC, GALE, GALK1, GALNS, GALNT3, GALT, GAMT, GATM, GBA, GBE1, GCDH, GDAP1, GDF5, GFM1, GFPT1, GHR, GHRHR, GJB2, GJB6, GLB1, GLDC, GLE1, GNE, GNPAT, GNPTAB, GNPTG, GNRHR, GNS, GORAB, GP1BA, GP9, GRHPR, GRIP1, GSS, GUCY2D, GUSB, GYS2, HADH, HADHA, HADHB, HAMP, HAX1, HBA1, HBA2, HBB, HELLS, HEXA, HEXB, HFE, HGD, HGSNAT, HINT1, HJV, HLCS, HMGCL, HMGCS2, HOGA1, HPD, HPS1, HPS3, HPS4, HPS5, HPS6, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HYAL1, HYLS1, IDH3B, IDUA, IFT140, IGHMBP2, IKBKB, IL2RA, IL7R, INPP5E, INVS, ITGA2B, ITGA6, ITGB3, ITGB4, ITPA, IVD, IYD, JAK3, KCNJ1, KCNJ11, KCTD7, KIF14, LAMA2, LAMA3, LAMB3, LAMC2, LARS, LCA5, LCK, LDLR, LDLRAP1, LHCGR, LHX3, LIFR, LIG4, LIPA, LIPN, LMAN1, LMBRD1, LOXHD1, LPAR6, LPL, LRAT, LRP2, LRPPRC, LTBP4, LYST, MAK, MALT1, MAN2B1, MANBA, MAT1A, MCCC1, MCCC2, MCEE, MCOLN1, MCPH1, MED17, MEFV, MEGF8, MESP2, MFSD8, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MPI, MPL, MPV17, MRE11, MTHFD1, MTHFR, MTMR2, MTR, MTRR, MTTP, MUT, MVK, MYO15A, MYO7A, NAGA, NAGLU, NAGS, NBAS, NBEAL2, NBN, NCF2, NCF4, NDRG1, NDUFA11, NDUFAF2, NDUFAF5, NDUFS4, NDUFS6, NDUFS7, NDUFV1, NEB, NEU1, NGLY1, NHEJ1, NIPAL4, NPC1, NPC2, NPHP1, NPHP3, NPHS1, NPHS2, NR2E3, NTRK1, OAT, OBSL1, OCA2, OPA3, OSTM1, OTOF, P3H1, PAH, PANK2, PC, PCBD1, PCCA, PCCB, PCDH15, PCNT, PDE6A, PDHB, PDHX, PDP1, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PGM3, PHGDH, PHKB, PHKG2, PHYH, PIGN, PIP5K1C, PJVK, PKHD1, PLA2G6, PLEKHG5, PLOD1, PLOD2, PMM2, PNP, PNPLA1, PNPO, POC1A, POLG, POLH, POLR1C, POMGNT1, POMT1, POMT2, POR, POU1F1, PPIB, PPT1, PRCD, PRDM5, PRF1, PRICKLE1, PRKDC, PROP1, PSAP, PTPRC, PTS, PUS1, PYCR1, PYGL, PYGM, QDPR, RAB23, RAG1, RAG2, RAPSN, RARS2, RAX, RD3, RDH12, RDH5, RFX5, RFXANK, RFXAP, RHAG, RLBP1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, ROGDI, RPE65, RPGRIP1, RPGRIP1L, RSPH9, RTEL1, SACS, SAG, SAMD9, SAMHD1, SARS2, SBDS, SCO1, SCO2, SDCCAG8, SDR9C7, SEC23B, SELENON, SEPSECS, SERPINA1, SERPINF1, SGCA, SGCB, SGCD, SGCG, SGSH, SH3TC2, SKIV2L, SLC12A1, SLC12A3, SLC12A6, SLC17A5, SLC19A2, SLC19A3, SLC1A4, SLC22A5, SLC25A13, SLC25A15, SLC25A20, SLC26A2, SLC26A3, SLC26A4, SLC27A4, SLC2A10, SLC2A2, SLC34A3, SLC35A3, SLC37A4, SLC39A4, SLC3A1, SLC45A2, SLC46A1, SLC4A1, SLC4A11, SLC5A5, SLC6A19, SLC7A7, SLC7A9, SMARCAL1, SMN1, SMPD1, SNAP29, SNX10, SP110, SPATA7, SPG11, SPG21, SPG7, SPINK5, SPR, SRD5A2, ST3GAL5, STAR, STK4, STX11, STXBP2, SUCLA2, SUMF1, SUOX, SURF1, SYNE4, TAT, TBCE, TBX19, TCIRG1, TCTN1, TCTN2, TCTN3, TECPR2, TERT, TF, TFR2, TG, TGM1, TH, TK2, TMC1, TMEM138, TMEM216, TMEM231, TMEM237, TMEM38B, TMEM67, TMEM70, TMPRSS3, TNFSF11, TNXB, TPO, TPP1, TRAPPC11, TRDN, TREX1, TRHR, TRIM32, TRIM37, TRMU, TRPM6, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TTC37, TTC7A, TTC8, TTPA, TULP1, TYMP, TYR, TYRP1, UGT1A1, UNC13D, USH1C, USH1G, USH2A, VDR, VLDLR, VPS13A, VPS13B, VPS45, VPS53, VRK1, VSX2, WHRN, WISP3, WNT1, WNT10A, WRN, XPA, XPC, ZAP70, ZBTB24, ZFYVE26, ZNF469
( 714 genes )
Detection Rate:
~99% @ 20x
Coverage:
98% at 20x
Specimen Requirements:
Blood (two 4ml EDTA tubes, lavender top) or Extracted DNA (3ug in EB buffer) or Buccal Swab or Saliva (kits available upon request)
Test Limitations:
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 Specifics:
| Gene | Notes |
|---|---|
| FXN | The FXN gene mutations most commonly associated with disease are expansions of a GAA trinucleotide repeat sequence. Only sequence variants and copy number changes in this gene are tested as part of this test unless specifically noted above. Repeat expansion testing may be warranted if the clinical presentation of the patient is specific for a condition associated with this gene. |
CPT Codes:
| CPT Code | 81443 |