Beacon Ashkenazi Jewish Female Carrier Screening Panel

  • Panel Description
  • Test Description
  • CPT Codes
  • Resources

Panel Description

The Beacon Ashkenazi Jewish Carrier Screening Panel analyzes genes for pathogenic variants known to cause recessive genetic disorders seen at high carrier frequencies within the Ashkenazi Jewish population. This test also screens for Fragile X Syndrome*, hemoglobinopathies, and spinal muscular atrophy.

Who Is This Test For?
This test is optimized for individuals and couples of Ashkenazi Jewish ancestry (people whose relatives include Jewish people from eastern or central Europe) and who are interested in carrier screening. The American College of Obstetricians and Gynecologists (ACOG) recommends that couples of Ashkenazi Jewish ancestry be offered carrier screening for Tay-Sachs disease, Canavan disease, cystic fibrosis, and familial dysautonomia. Furthermore, advocacy groups such as the Jewish Genetic Disease Consortium also recommend testing for other disorders such as mucolipoidosis IV, Niemann-Pick disease type A, Fanconi anemia group C, Bloom syndrome, and Gaucher disease.

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).
  • Fragile X: The trinucleotide repeat (CGG) expansion in the 5’ untranslated region of FMR1 is detected by repeat-primed PCR (rpPCR). Premutation carriers are sequenced by Sanger sequencing to detect AGG interruptions.
  • Spinal Muscular Atrophy: copy number changes in the SMN1 gene are screened by NGS and confirmed by MLPA. Point mutations for spinal muscular atrophy are not detected due to high sequence homology.
  • Pseudogenes: proprietary bioinformatics tools are employed to identify carrier mutations in disease genes (such as GBA for Gaucher disease 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%.

*Male patients will not be screened for X-linked conditions (e.g., FMR1, etc.). If an X-linked condition is suspected in a male patient, please contact Fulgent Genetics or a genetics professional about diagnostic testing for that disorder.

Test Description

Print
  • Sequencing (included)
  • Del/Dup (included)
  • Duo/Trio
2 weeks
Call for details
ABCC8, ADAMTS2, ASPA, ATP7B, BBS2, BCKDHA, BCKDHB, BLM, CFTR, CLRN1, COL4A3, CPT2, DHCR7, DHDDS, DLD, DNAH5, DNAI1, DNAI2, ELP1, F11, FAH, FAM161A, FANCC, FKTN, FMR1, G6PC, GAA, GALT, GBA, GBE1, GJB2, HBA1, HBA2, HBB, HEXA, HOGA1, HPS3, LOXHD1, MCOLN1, MEFV, MPL, MTTP, NDUFS6, NEB, NR2E3, PAH, PCDH15, PEX2, PFKM, PHGDH, PKHD1, PMM2, RTEL1, SLC35A3, SMN1, SMPD1, SUMF1, TCIRG1, TMEM216, VPS13A, VRK1 ( 61 genes )
99% 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.

CPT Code 81412

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.

Resources

  1. Carrier screening for genetic conditions. Committee Opinion No. 691. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129:e41-55
  2. Carrier screening in the age of genomic medicine. Committee Opinion No. 690. American College of Obstetricians and Gynecologists. Obstet Gynecol 2017;129e35-40
  3. Edwards et al. Expanded Carrier Screening in Reproductive Medicine--Points to Consider. A Joint Statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine. Obstet Gynecol 2015; 125(3)
  4. Gregg AR et al. ACMG Professional Practice and Guidelines Committee. Screening for autosomal recessive and X-linked conditions during pregnancy and preconception: a practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2021 Oct;23(10):1793-1806. PMID: 34285390
  5. Prior TW. Carrier screening for spinal muscular atrophy. ACMG Practice Guidelines. Genet Med 2008:10(11):840-842
  6. Sherman S et al. Fragile X syndrome: Diagnostic and carrier testing. ACMG Practice Guidelines. Genet Med 2005:7(8):584-587
  7. Watson MS et al. Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel. ACMG Policy Statement. Genet Med 2004:6(5):387-391