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Genetic Testing

Inborn Errors of Metabolism and
Constitutional Genetic Disorders


About the Robert Guthrie Biochemical & Molecular Genetics Laboratory at KSL Diagnostics


The ​Robert Guthrie Biochemical & Molecular Genetics Laboratory at KSL Diagnostics performs diagnostic testing for inborn errors of metabolism and constitutional genetic changes.


​Dr. Robert Guthrie introduced the first newborn screening test in the United States for phenylketonuria (PKU), a progressive and fatal disease of young children, in the early 1960s. Dr. Guthrie developed this test while at Buffalo Children’s Hospital in late 1950’s. By the late 1960s, spearheaded by Dr. Guthrie, the newborn screening for genetic diseases became a part of infant health care in the United States. The lab established in his honor performs testing to detect amino acid disorders as well as other inborn genetic disorders.

KSL Diagnostics is licensed in New York, California, Maryland, Pennsylvania, and Rhode Island.


The main goal of the laboratory is to provide comprehensive diagnostic testing that will facilitate the arrival at a final diagnosis for the patient through coordination with clinical, histochemical and molecular findings.  

Sample Requirements for Cytogenetics & Microarray:

  • Peripheral Blood

    • 2-5mL in a Sodium Heparin tube. 5 mL in a EDTA will be accepted for microarray only but is not preferred.

    • Minimum: 1 mL

  • Turnaround Time: 7-10 days

  • Storage: Room temperature if being shipped within 24 hours.  Refrigerate if shipping will be delayed.

  • Stability: Sample is optimum if received within 48 hours.

  • Transportation: Room temperature (do not freeze or fix)

Sample Requirements for Amino Acid Testing:

  • Plasma

    • 3 mL in Sodium Heparin (preferred) or Lithium Heparin (acceptable). Fasting preferred.  Plasma should be separated within 2 hours of collection.

    • Minimum: 0.5 mL

  • Urine (full Amino Acid Profile only)

    • 2 mL random urine in plastic collection container.  First morning urine preferred. Avoid dilute urine when possible.

    • Minimum: 1 mL

  • Cerebral Spinal Fluid (full Amino Acid Profile only)

    • 0.5 mL CSF collected in a sterile vial.  Centrifuge CSF to separate and remove cellular material and blood contamination and aliquot supernatant

    • Minimum: 0.3 mL

  • Turnaround Time (all specimen types): 48-72 hours, priority given to critically ill patients and infants less than one year of age

  • Storage (all specimen types): Specimen should not be left at room temperature for more than 2 hours.  Samples should not be frozen for more than 2 weeks.

  • Stability (all specimen types): Specimens are optimum when received as quickly as possible, due to amino acid lability.  Samples outside of stability range include samples left at room temperature for more than 24 hours or frozen for more than 2 weeks.

  • Transportation (all specimen types): Frozen  (-15 to -25 °C)

Sample Requirements for Orotic Acid Testing:

  • Urine

    • 5-10 mL random urine, no preservative in plastic collection container.  Aliquot from a 24 hour urine collection with no preservative is acceptable.

    • Minimum: 5.0 mL

  • Turnaround Time: 72 hours

  • Storage: Refrigerate following collection

  • Stability: 24 hours at room temperature, 5 days refrigerated, 2 years at -80 °C

  • Transportation:

    • Local clients: transport in a cooler with ice packs within 24 hours of collection

    • Out-of-area clients: Specimen should be shipped frozen on dry ice

Genetic Testing

Biochemical Testing

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