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Customized single gene disorder screening

IdentifySGD, available only through the Foundation for Embryonic Competence (FEC), is a unique test customized for each family. With IdentifySGD, the FEC can detect genetic alterations associated with specific single gene disorders in an embryo prior to transfer during an in vitro fertilization (IVF) cycle.


A test as unique as your genetics

A single gene disorder is a disease that is caused by a known alteration or mutation in one of the more than 20,000 genes in nearly every cell of the body. A disorder may be inherited through one or more generations in a family or inherited from both members of a couple who are carriers of the same condition.

IdentifySGD is customized to identify the specific disorder(s) of interest in your embryos. By transferring only embryos that do not have the associated genetic alteration(s) or mutation(s), families decrease their risk of having a child with that single gene disorder or disorders.

The FEC can test for nearly all single gene disorders with unmatched accuracy, giving you peace of mind as you grow your family.

Our technology allows us to select markers on your embryos’ chromosomes as close as possible to the mutation site. This reduces the risk of recombination (rearrangement of genetic material) and allows us to provide the most accurate result clinically possible.

The FEC can test for nearly all single gene disorders with unmatched accuracy, giving you peace of mind as you grow your family. Many other laboratories are not able to test for the range of disorders for which the FEC can test.

The following are some of the single gene disorders the FEC has successfully identified using IdentifySGD:

  • Aarskog syndrome
  • Alport syndrome
  • Autosomal recessive polycystic kidney disease
  • Beta-thalassemia
  • BRCA1/BRCA2-related breast and ovarian cancer syndromes
  • Charcot-Marie-Tooth disease
  • Congenital hyperinsulinism
  • Cystic fibrosis
  • Duchenne muscular dystrophy
  • Dyskeratosis congenita
  • Familial dysautonomia
  • Fragile X syndrome
  • Gaucher disease
  • Galactosemia
  • Hemophilia A
  • Hemophilia B
  • Hereditary hemorrhagic telangiectasia
  • Homocystinuria
  • HLA genotyping
  • Hunter syndrome
  • Huntington disease
  • Hypertrophic cardiomyopathy
  • Joubert syndrome
  • Kallmann syndrome
  • Kell genotyping
  • Long QT syndrome
  • Lynch syndrome
  • Metachromatic leukodystrophy
  • Myotonic dystrophy
  • Neurofibromatosis
  • Nonsyndromic hearing loss and deafness, DFNB1
  • Noonan syndrome
  • Sickle cell anemia
  • Spinal muscular atrophy
  • Stickler syndrome
  • Tay-Sachs disease
  • Von Hippel-Lindau syndrome

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All embryos tested with IdentifySGD will also receive aneuploidy screening with NexCCS.

See the following for steps to the IdentifySGD process:

Validation Phase

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Step 1

Review genetic reports

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Step 2

Collect samples

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Step 3

Develop custom test

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Step 4

Notify IVF team of phase completion

Biopsy Phase

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Step 1

Receive embryo biopsy

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Step 2

Analyze DNA

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Step 3

Issue reports

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Step 4

Schedule IVF transfer

 

Talk to your doctor, nurse, or genetic counselor about IdentifySGD and the specific single gene disorders for which you may consider testing.

 

Download IdentifySGD Brochure

Unique test. Unparalleled outcomes.

IdentifySGD,  a unique preimplantation genetic diagnosis (PGD) test that is designed to detect genetic alterations associated with specific single gene disorders, may benefit an individual or couple at increased risk of having a child with a single gene disorder based on family or medical history.

IdentifySGD provides:

  •  Greater than 99% diagnostic rate for embryo samples tested vs. 84% diagnostic rate with other tests1,2
  • Allele drop-out rate of less than 1% vs. 12% with other tests like WGA with microarray or STR analysis1,2
  • The ability to screen for nearly every single gene disorder

Greater than 99% diagnosis of embryo samples tested.1

With IdentifySGD, the FEC can screen for nearly any condition, including:

  • Aarskog syndrome
  • Alport syndrome
  • Autosomal recessive polycystic kidney disease
  • Beta-thalassemia
  • BRCA1/BRCA2-related breast and ovarian cancer syndromes
  • Charcot-Marie-Tooth disease
  • Congenital hyperinsulinism
  • Cystic fibrosis
  • Duchenne muscular dystrophy
  • Dyskeratosis congenita
  • Familial dysautonomia
  • Fragile X syndrome
  • Gaucher disease
  • Galactosemia
  • Hemophilia A
  • Hemophilia B
  • Hereditary hemorrhagic telangiectasia
  • Homocystinuria
  • HLA genotyping
  • Hunter syndrome
  • Huntington disease
  • Hypertrophic cardiomyopathy
  • Joubert syndrome
  • Kallmann syndrome
  • Kell genotyping
  • Long QT syndrome
  • Lynch syndrome
  • Metachromatic leukodystrophy
  • Myotonic dystrophy
  • Neurofibromatosis
  • Nonsyndromic hearing loss and deafness, DFNB1
  • Noonan syndrome
  • Sickle cell anemia
  • Spinal muscular atrophy
  • Stickler syndrome
  • Tay-Sachs disease
  • Von Hippel-Lindau syndrome

Show AllShow Less

 

The IdentifySGD process

Patients must complete two phases for IdentifySGD testing: the validation (work-up) phase and the biopsy phase.

Validation phase

During the validation phase, we require bloodwork from the patient and the partner. Depending on the disorder, we will likely ask that other available family members submit a buccal swab. Using these samples, the FEC will customize a unique test for each family.

Biopsy phase

IdentifySGD requires a trophectoderm embryonic biopsy. Upon receipt of the biopsy sample, the FEC will use the unique test developed during the validation phase to test the embryo(s) for the mutation of interest. Additionally, all embryos tested with IdentifySGD will receive aneuploidy screening with NexCCS. By the end of this process, you and your patients can make better decisions about which embryos should be considered for IVF transfer based on their genetic makeup.

The FEC is proud to provide embryology training and validation on trophectoderm biopsies prior to your clinic sending any samples to the FEC. Please contact the FEC for more information about this best-in-class service.

See the following for steps to the IdentifySGD process:

Validation Phase

sgd-step-a1

Step 1

Review genetic reports

sgd-step-a2

Step 2

Collect samples

sgd-step-a3

Step 3

Develop custom test

sgd-step-a4

Step 4

Notify IVF team of phase completion

 

Biopsy Phase

sgd-step-b1

Step 1

Receive embryo biopsy

sgd-step-b2

Step 2

Analyze DNA

sgd-step-b3

Step 3

Issue reports

sgd-step-b4

Step 4

Schedule IVF transfer

 

Download Physician Flashcard


References: 1. Data on file. The Foundation for Embryonic Competence. 2. Gutiérrez-Mateo C, Sánchez-Garcia JF, Fischer J, et al. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril. 2009;92(5):1544-1556.