GENOME SEQUENCING

Whole Genome Sequencing (WGS) for Molecular Diagnosis at Hortman Stem Cell Laboratory

Whole genome sequencing (WGS) is the most comprehensive genetic test available. It sequences all of the DNA in the genome, including the protein-coding regions and the non-coding regions. WGS can be used to identify a wide range of genetic variants, including single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs), and structural variants.

At Hortman Stem Cell Laboratory, we offer WGS as a comprehensive and accurate diagnostic tool for patients with suspected genetic disorders. Our WGS test is performed by experienced molecular geneticists using state-of-the-art sequencing technology.

WGS offers a number of benefits for molecular diagnosis at Hortman Stem Cell Laboratory, including:

  • Most comprehensive genetic test: Our WGS test sequences all of the DNA in the genome, providing the most comprehensive overview of the patient’s genetic makeup.
  • High sensitivity: Our WGS test is able to detect a wide range of genetic variants, including SNVs, indels, CNVs, and structural variants.
    Fewer variants of uncertain significance (VUS): Our WGS test is less likely to generate VUS than other genetic tests, such as targeted gene sequencing or WES. This is because our WGS test has a larger database of known genetic variants.
  • Expert interpretation: Our WGS results are interpreted by a team of experienced molecular geneticists who are experts in the field of genetic diagnosis.

WGS may be considered for molecular diagnosis at Hortman Stem Cell Laboratory in patients with a suspected genetic disorder, including:

  • Patients with a family history of genetic disease
  • Patients with multiple congenital anomalies
  • Patients with intellectual disability
  • Patients with developmental delay
  • Patients with autism spectrum disorder
  • Patients with rare or undiagnosed medical conditions
  • Patients with cancer
To order WGS for molecular diagnosis at Hortman Stem Cell Laboratory, please contact your healthcare provider. Your provider will collect a blood sample from you and send it to our laboratory. We will then sequence your genome and generate a report that identifies any genetic variants that are present.

Your WGS results will be interpreted by a team of experienced molecular geneticists at Hortman Stem Cell Laboratory. The team will review your medical history and clinical findings, as well as your WGS results, to determine if there is a genetic variant that is likely to be causing your condition.

If a genetic variant is identified that is likely to be causing your condition, your molecular geneticist will discuss the findings with you and your family. The molecular geneticist will also provide information about the condition and its prognosis, as well as genetic counseling to help you and your family make informed decisions about the future.

WGS is the most comprehensive genetic test available. At Hortman Stem Cell Laboratory, we offer WGS as a comprehensive and accurate diagnostic tool for patients with suspected genetic disorders. If you are considering WGS for molecular diagnosis, please talk to your healthcare provider about ordering the test through Hortman Stem Cell Laboratory.

Whole Exome Sequencing (WES) for Molecular Diagnosis at Hortman Stem Cell Laboratory

Whole exome sequencing (WES) is a powerful molecular diagnostic tool that can be used to identify the genetic cause of a wide range of diseases, including rare genetic disorders, neurodevelopmental disorders, and cancer. WES sequences all of the protein-coding regions of the genome, which is where most known disease-causing mutations occur.

At Hortman Stem Cell Laboratory, we offer WES as a comprehensive and accurate diagnostic tool for patients with suspected genetic disorders. Our WES test is performed by experienced molecular geneticists using state-of-the-art sequencing technology.

WES offers a number of benefits for molecular diagnosis at Hortman Stem Cell Laboratory, including:
  • Comprehensive sequencing: Our WES test sequences all of the protein-coding regions of the genome, providing a comprehensive overview of the patient’s genetic makeup.
  • High sensitivity: Our WES test is able to detect a wide range of genetic variants, including single nucleotide variants (SNVs), insertions and deletions (indels), and copy number variants (CNVs).
  • Fewer variants of uncertain significance (VUS): Our WES test is less likely to generate VUS than other genetic tests, such as targeted gene sequencing. This is because our WES test has a larger database of known genetic variants.
  • Expert interpretation: Our WES results are interpreted by a team of experienced molecular geneticists who are experts in the field of genetic diagnosis.
WES may be considered for molecular diagnosis at Hortman Stem Cell Laboratory in patients with a suspected genetic disorder, including:
  • Patients with a family history of genetic disease
  • Patients with multiple congenital anomalies
  • Patients with intellectual disability
  • Patients with developmental delay
  • Patients with autism spectrum disorder
  • Patients with rare or undiagnosed medical conditions
  • Patients with cancer
To order WES for molecular diagnosis at Hortman Stem Cell Laboratory, please contact your healthcare provider. Your provider will collect a blood sample from you and send it to our laboratory. We will then sequence your exome and generate a report that identifies any genetic variants that are present.

Your WES results will be interpreted by a team of experienced molecular geneticists at Hortman Stem Cell Laboratory. The team will review your medical history and clinical findings, as well as your WES results, to determine if there is a genetic variant that is likely to be causing your condition.

If a genetic variant is identified that is likely to be causing your condition, your molecular geneticist will discuss the findings with you and your family. The molecular geneticist will also provide information about the condition and its prognosis, as well as genetic counseling to help you and your family make informed decisions about the future.

WES is a powerful molecular diagnostic tool that can be used to identify the genetic cause of a wide range of diseases. At Hortman Stem Cell Laboratory, we offer WES as a comprehensive and accurate diagnostic tool for patients with suspected genetic disorders. If you are considering WES for molecular diagnosis, please talk to your healthcare provider about ordering the test through Hortman Stem Cell Laboratory.

Genomic Newborn Screening (gNBS) at Hortman Stem Cell Laboratory

Genomic newborn screening (GNS) is a genetic test that is performed on newborn babies to identify genetic disorders that can be treated early in life. GNS is a valuable tool for early detection and treatment of genetic disorders, which can improve the outcomes for affected babies.

At Hortman Stem Cell Laboratory, we offer GNS as a comprehensive and accurate screening test for newborn babies. Our GNS test sequences all of the protein-coding genes in the genome, as well as selected non-coding regions. This allows us to identify a wide range of genetic variants, including single nucleotide variants (SNVs), insertions and deletions (indels), copy number variants (CNVs), and structural variants.

Genomic newborn screening at Hortman Stem Cell Laboratory offers a number of benefits, including:

  • Comprehensive screening: Our GNS test sequences all of the protein-coding genes in the genome, as well as selected non-coding regions, providing the most comprehensive screening available.
  • High sensitivity: Our GNS test is able to detect a wide range of genetic variants, including SNVs, indels, CNVs, and structural variants.
  • Early detection: GNS can detect genetic disorders early in life, before they cause symptoms. This allows for early intervention and treatment, which can improve outcomes for affected babies.
  • Expert interpretation: Our GNS results are interpreted by a team of experienced molecular geneticists who are experts in the field of genetic diagnosis.

Genomic newborn screening may be considered for all newborn babies, regardless of family history or risk factors. However, GNS may be especially beneficial for babies with certain risk factors, such as:

  • A family history of genetic disease
  • Multiple congenital anomalies
  • Intellectual disability
  • Developmental delay
  • Autism spectrum disorder
  • Rare or undiagnosed medical conditions
To order genomic newborn screening at Hortman Stem Cell Laboratory, please contact your healthcare provider. Your provider will collect a blood sample from your baby and send it to our laboratory. We will then sequence your baby’s genome and generate a report that identifies any genetic variants that are present.

Your baby’s genomic newborn screening results will be interpreted by a team of experienced molecular geneticists at Hortman Stem Cell Laboratory. The team will review your baby’s medical history and clinical findings, as well as the genomic newborn screening results, to determine if there is a genetic variant that is likely to be causing your baby’s condition.

If a genetic variant is identified that is likely to be causing your baby’s condition, your molecular geneticist will discuss the findings with you and your family. The molecular geneticist will also provide information about the condition and its prognosis, as well as genetic counseling to help you and your family make informed decisions about the future.

Genomic newborn screening is a valuable tool for early detection and treatment of genetic disorders. At Hortman Stem Cell Laboratory, we offer genomic newborn screening as a comprehensive and accurate screening test for newborn babies. If you are considering genomic newborn screening for your baby, please talk to your healthcare provider about ordering the test through Hortman Stem Cell Laboratory.