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Genetic Labs

Houston, Texas

Genetic Laboratory
Baylor Genetics Laboratories
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Medical Genetics Test Details

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PreSeek Non-invasive Prenatal Gene Sequencing Screen
Test Information: PreSeek is a cell-free fetal DNA non-invasive prenatal multi-gene screen that assesses for fetal disorders using maternal blood. PreSeek screens for genetic disorders that can cause skeletal dysplasias, cardiac defects, multiple congenital anomalies and/or intellectual defects due to variants in the genes included (see list of genes analyzed in special notes section). Both biological parental samples are required for this screen to be performed. PreSeek will report only pathogenic and likely pathogenic variants and will not report variants of uncertain significance or benign variants. PreSeek detects predominantly de novo variants (a gene variant that is not inherited). The rate of de novo variants has been shown to increase as paternal age advances.

PreSeek does not screen for fetal chromosome, or other copy number, abnormalities commonly detected by traditional (aneuploidy) NIPT. Positive screening results should always be followed-up with an invasive, diagnostic test before any medical decisions are made.
Test Details
Test Code: 21200
Special Notes: Both biological parental samples are REQUIRED for PreSeek to be performed. Maternal specimen requirement is blood collected in two (2) Streck tubes. Paternal specimen requirement is EITHER blood (collected in EDTA) OR saliva (collected in Oragene self-collection kit). Please see specific specimen requirements below.

Patient must be at least 9 weeks gestation at the time of collection of the maternal specimen.

Sequence analysis for all 30 genes in the PreSeek panel:
BRAF, CBL, CDKL5, CHD7, COL1A1, COL1A2, FGFR2, FGFR3, HDAC8, HRAS, JAG1, KRAS, MAP2K1, MAP2K2, MECP2, NIPBL, NRAS, NSD1, PTPN11, RAD21, RAF1, RIT1, SHOC2, SMC1A,SMC3, SOS1, SOS2, SYNGAP1, TSC1, TSC2

For a comprehensive gene list with corresponding disorders, please see the PreSeek Information Flyer

This screen is not a substitute for existing screening or diagnostic testing for pregnancies with abnormal clinical findings or for those at risk of a genetic disease. While results of this screen are highly accurate, not all genetic abnormalities may be detected due to placental, maternal or fetal mosaicism, non-singleton pregnancy, fetal demise, or other causes. Possible diagnostic errors include sample mix-ups, genetic or somatic variants that interfere with analysis, incorrect assignment of biological parentage, and other sources. Please contact a genetic counselor at Baylor Genetics if there is reason to suspect one of these sources of error. The healthcare provider is responsible for the use of the PreSeek results in the management of their patient. Genetic counseling and clinical correlation are recommended.

Known pathogenic or novel truncating likely pathogenic variants detected in exons and within 10bp of the exon/intron boundary are reported. The classification of genetic variants is based on current information available to us and guidelines issued by ACMG (PMID: 25741868) and/or Baylor Genetics. This interpretation may change over time as more information about this gene becomes available. Incorrect familial information or personal clinical information provided to us may result in misinterpretation of variants. Variants that are classified as having uncertain clinical significance or that are likely benign or benign are not listed in this report. Overall, more than 97% of targeted regions are sequenced with a minimum coverage of 200X. This analysis will not detect variants within the promoter or intronic regions (beyond 10bp from the intron/exon boundary). The analytical sensitivity for single nucleotide variants is >99% with a test specificity at >99%. Complex mutations including small insertions, duplications, and indels might be detected at a lower sensitivity. Exonic, gene or chromosomal copy number changes are not detected by this screen.

PreSeek Information Flyer
Technical Information
Methodology: Next-Generation Sequencing
Gene Name: Please see "Special Notes" section for a list of genes.
Sample & Shipping Information
Test Requisition: PreSeek Non-Invasive Prenatal Screening
Specimen Type: Blood
Requirements: Maternal specimen requirement is blood collected in two (2) Streck tubes. Each Streck tube must have at least 8mL of blood.
Shipping Conditions: Ship at ambient temperature in an insulated container by overnight courier. Do not heat or freeze. We recommend samples are received in lab <72 hours after time of collection. If Streck tube is received in lab >5 days after DOC, the sample will be rejected.

Specimen Type: Blood
Requirements: Paternal specimen requirement is EITHER blood OR saliva. Blood should be collected in an EDTA (purple-top) tube.
Shipping Conditions: Ship at ambient temperature in an insulated container by overnight courier. Do not heat or freeze.

Specimen Type: Saliva
Requirements: Paternal specimen requirement is EITHER blood OR saliva. Saliva should be collected with an Oragene DNA self-collection Kit.
Shipping Conditions: Ship at ambient temperature in an insulated container by overnight courier. Do not heat or freeze.

Turn Around Time: 14 days
Billing Information
List Price: *For Insurance or Institutional Prices, please call.
CPT Codes: 81302x1, 81404x1, 81406x1, 81407x1, 81408x1, 81442x1


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