SERVICES

PGT-M stands for Preimplantation Genetic Testing for Monogenic Disorders, also referred to as a single gene disorder. PGT-M is used to reduce the risk of having a child with a known inherited disorder caused by mutations in a single gene, such as cystic fibrosis or Huntington’s disease. Typically, these patients are known carriers, have a family history of a certain disorder, or are affected themselves.

PGT-M

Preimplantation Genetic Testing for Monogenic Disorders

  • PGT-M can help those:

    • Who have been diagnosed with a hereditary condition

    • With a family history of a diagnosed hereditary disorder

    • With previous conception of a child with an inherited genetic disorder

    • Who have been found to be carriers of a hereditary genetic condition along with their partner

    • Alpha thalassemia (HBA1/HBA2)

    • Beta thalassemia (HBB)

    • Charcot-Marie-Tooth (PMP22)

    • Cystic fibrosis (CFTR)

    • Duchenne muscular dystrophy (DMD)

    • Fragile X syndrome (FMR1)

    • Hemophilia A (F8)

    • Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2)

    • Huntington's disease (HTT)

    • Nonsyndromic hearing loss (GJB2)

    • Osteogenesis imperfecta (COL1A1)

    • Polycystic kidney disease (PKD1)

    • Spinal muscular atrophy (SMN1)

    • 21-hydroxylase deficiency (CYP21A2)

Our team can develop testing for virtually any disorder with a very low rejection rate (<1%).

Fast, accurate PGT-M results with industry-leading support

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Enhanced testing

We use a specialized approach that gives more gene coverage and little to no test build time for the disorders listed below:

  • Cystic fibrosis (CFTR)

  • Spinal muscular atrophy (SMN1)

  • Fragile X syndrome (FMR1)

  • Osteogenesis imperfecta (COL1A1)

  • Alpha thalassemia (HBA1/HBA2)

  • Beta thalassemia (HBB)

  • Hereditary breast and ovarian cancer syndrome (BRCA1/BRCA2)

Other disorders not listed above will take typically 6-8 weeks for test build. Please check with our team as we are adding additional quick turnaround disorders all the time. All testing is completed in the US at our California laboratory.

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A better process

Our team can supply your clinic with collection kits. Instructions for collection and shipping are included in the kit, making it easy for patients to use. Home collection is available. The testing process can begin independently of parental samples.

  • Your clinic submits a requisition form and mutation report to our team.

  • Our certified genetic counseling team reviews the documents and collects a brief family history.

  • Notification is sent regarding case acceptance.

  • We will request samples from specific family members, and sample collection kits will be sent with either blood tubes, buccal (cheek) swabs, or saliva collection tubes.

  • Once test creation is complete you and your clinic will be notified, and your IVF cycle can begin.

Let’s get started

The team at Luminary Genetics is here to support you, your team, and your patients from sample collection to results. Our process is simple and we are available should any questions arise. Email us at support@luminarygenetics.com or use the button below to get in touch.