Get a more complete picture of your pregnancy with PreSeekTM

Introducing PreSeekTM, the first clinical noninvasive prenatal multigene sequencing screen.

PreSeek™ screens for various clinically significant and life-altering genetic disorders that are not screened for with current NIPT technology. Disorders screened by this innovative test often occur in the absence of a family history of the condition. The screen, developed by the genomic experts at Baylor Genetics in conjunction with Baylor College of Medicine, assesses fetal DNA for pathogenic and likely pathogenic variants in 30 genes. PreSeek™ is the next step in the evolution of screening for genetic disorders during pregnancy, providing information that can affect medical decisions, preparation, and peace of mind for families and physicians. Simply put, PreSeek™ is the most comprehensive single gene cell-free fetal DNA screen available.

Many disorders in PreSeek™ are not typically associated with abnormal prenatal ultrasound findings (especially in the first trimester), or may not be evident until late second/third trimester or after delivery. Although the occurrence of each disorder is relatively rare, the cumulative rate of occurrence of these conditions is similar to that of Down Syndrome. Knowing whether or not a baby has one of these significant, and often devastating, genetic disorders can allow for healthcare providers and families to form a plan of care including, but not limited to, genetic counseling, specialist referrals, confirmatory studies, and delivery care. The difference in detecting a significant genetic disorder in the first/second trimester versus late in pregnancy, or in the neonatal period, can be of immeasurable benefit to healthcare providers and families.

Test Code
Gestational Age

Minimum of 9 Weeks

Maternal

Peripheral Blood in Two 10ml Cell-free DNA BCT® Streck Tubes

SYNDROMIC DISORDERS

GENE

DISORDER

JAG1

Alagille syndrome

CHD7

CHARGE syndrome

NIPBL

Cornelia de Lange syndrome 1

SMC1A

Cornelia de Lange syndrome 2

SMC3

Cornelia de Lange syndrome 3

RAD21

Cornelia de Lange syndrome 4

HDAC8

Cornelia de Lange syndrome 5

CDKL5

Epileptic encephalopathy, early infantile, 2

SYNGAP1

Intellectual disability

MECP2

Rett syndrome

NSD1

Sotos syndrome 1

TSC1

Tuberous sclerosis 1

TSC2

Tuberous sclerosis 2

SKELETAL DISORDERS

GENE

DISORDER

FGFR3

Achondroplasia

CATSHL syndrome

Crouzon syndrome with acanthosis nigricans

Hypochondroplasia

Muenke syndrome

Thanatophoric dysplasia, type I

Thanatophoric dysplasia, type II

COL1A1

Ehlers-Danlos syndrome, classic

Ehlers-Danlos syndrome, type VIIA

Osteogenesis imperfecta, type I

Osteogenesis imperfecta, type II

Osteogenesis imperfecta, type III

Osteogenesis imperfecta, type IV

COL1A2

Ehlers-Danlos syndrome, cardiac valvular form

Ehlers-Danlos syndrome, type VIIB

Osteogenesis imperfecta, type II

Osteogenesis imperfecta, type III

Osteogenesis imperfecta, type IV

NOONAN SPECTRUM DISORDERS

GENE

DISORDER

BRAF

Cardiofaciocutaneous syndrome 1

MAP2K1

Cardiofaciocutaneous syndrome 3

MAP2K2

Cardiofaciocutaneous syndrome 4

HRAS

Costello syndrome/Noonan syndrome

PTPN11

Noonan syndrome 1/LEOPARD syndrome/cancers

SOS1

Noonan syndrome 4

RAF1

Noonan syndrome 5/LEOPARD syndrome 2

NRAS

Noonan syndrome 6/cancers

RIT1

Noonan syndrome 8

SOS2

Noonan syndrome 9

SHOC2

Noonan syndrome-like disorder with loose anagen hair

CBL

Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)

KRAS

Noonan syndrome/cancers

CRANIOSYNOSTOSIS DISORDERS

GENE

DISORDER

FGFR2

Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis

Apert syndrome

Crouzon syndrome

Jackson-Weiss syndrome

Pfeiffer syndrome type 1/2/3

Begin your discovery with PreSeek™

Specimen Requirements
SAMPLE TYPE REQUIREMENTS SHIPPING CONDITIONS

Blood

Maternal specimen requirement is blood collected in two (2) Streck tubes. Each Streck tube must have at least 8mL of blood.

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 >8 days after DOC, the sample will be rejected.

How It Works:

Order appropriate testing for your patient.

The patient’s sample is collected.

The patient’s sample is sent to Baylor Genetics.

Results are sent to the physician.

Discuss the results with the patient.

More questions? Please contact us by calling 1.800.411.4363.

Yue Wang
Clinical Director, NGS/Molecular
Performance of the Newly Developed Non-Invasive Prenatal Multi-Gene Sequencing Screen

A summary of the technical details of PreSeek in validation and commercial samples. Read the full white paper by clicking here.

Disclaimer: PreSeek is a screening test. This means that pregnancy decisions should not be based solely on the results of PreSeek. The purpose of PreSeek is to indicate if the baby is at increased risk for a genetic disorder allowing for follow-up invasive prenatal studies or newborn studies.
Performing this screening allows for an assessment for known pathogenic and likely pathogenic variants in select genes associated with select disorders. PreSeek should be offered in conjunction with genetic counseling, including review of family history, to help determine the most appropriate prenatal studies for any pregnant woman.