Whole Exome Sequencing

Synapse’s WES is a next generation sequencing genetic test to identify pathogenic variant in the exome and its associated disorder that potentially contribute to phenotypes of the patient. The WES covers 45Mb exonic content inclusive of mitochondrial regions with ≥98% coverage of RefSeq, CCDS, and Ensembl coding content. It guarantees high on-target reads percentage and coverage uniformity even in GC-rich regions, including the first exon.

Targeted Panels

Synapse’s targeted panels are customized by clinical presentation and syndromic approach for focused analysis. The list of genes is updated from time to time according to the latest database versions.

Robust Performance and Personalized Clinical Reporting

  • Exonic region: ≥94% coverage at 60.7x
  • Mitochondrial region: ≥99% coverage at 30x
  • 99.4% SNV precision, 83.0% Indel precision
  • 94.3% SNV recall, 85.4% Indel recall

Copy Number Variants (CNVs), Germline Variants, Insertions-Deletions (indels), Loss of Heterozygosity (LOH), Single Nucleotide Polymorphisms (SNPs), Somatic Variants

Bead-bound transposomes and hybrid-capture chemistry method delivers consistent insert sizes, uniform coverage, and optimized performance

Established technology minimizes bias and error, resulting in highly reproducible and high-quality data

Classification of variants according to both ACMG guidelines and software’s prediction to offer a comprehensive set of information to clinicians for improved assessment of variants pathogenicity

Reproductive Health Genetic Testing

Sexual development and reproductive function including fertility are regulated by the actions of the hypothalamic–pituitary–gonadal (HPG) axis instigated by gonadotropin releasing hormone which is influenced by many genes that regulate the paracrine and endocrine interactions necessary for spermatogenesis and ovulation

Application of Reproductive Health NGS Panel

Genetic evaluation of reproductive health issues helps in targeted patient
management including adaption of the most appropriate assisted
reproductive techniques;

  • Delayed puberty
  • Abnormal hormonal profiles
  • Impaired development of the gonads
  • Infertility (couple fails to achieve pregnancy after 12 months of regular,
    unprotected sexual intercourse)
  • Recurrent miscarriage
  • Inconclusive fertility diagnosis from biochemical and instrumental analyses

Synapse’s Reproductive Health NGS Panel consists of the Male Fertility Panel and Female Fertility Panel.

  • Male Fertility Panel covers the coding regions (± 5bp of intronic regions) of
    93 genes associated with 19 disorders related to reproductive health. This
    panel examines the common genetic cause of male infertility including:
    • Spermatogenic defect such as asthenozoospermia, non-obstructive
    azoospermia/ severe oligospermia, obstructive azoospermia and sperm
    morphology alterations
    • Sex chromosome aneuploidies such as Klinefelter’s syndrome
    • Hormonal disorders such as combined pituitary hormone deficiency,
    Kallman syndrome and Persistent Müllerian duct syndrome

Female Fertility Panel covers the coding regions (± 5bp of intronic regions) of 109 genes associated with 14 disorders related to reproductive health. This panel examines the common genetic cause of female infertility including:

  • Ovarian disorders such as polycystic ovary syndrome, primary ovarian
    insufficiency and ovarian hyperstimulation syndrome
    • Embryo development such as embryo development arrest,
    • Developmental defects such as Müllerian aplasia and hyperandrogenism,
    Kallmann syndrome, oocyte maturation defects and Swyer syndrome

Get intouch with us to find out more about the solutions we provide at Synapse

Our Vision

To become the leading regional healthcare testing provider by offering unique screening and diagnostic solutions that better the nature of conventional healthcare services.