PGDA NGS for monogenic diseases
– most frequent mutations

What is PGD ONE FM™?

PGD ONE™ is a test that detects the genetic defects (most frequent mutations) inherited by a child from their parents. DNA material from embryos is analysed prior to transfer to the uterus, that is, before the woman actually becomes pregnant.

The test can be carried out on material collected by biopsy in the 3rd (blastomere) or 5th/6th (trophectoderm cells) day of the embryo culture. Because of the risk of misdiagnosis caused by the pollution of sperm when using standard in vitro fertilization, the ICSI procedure is recommended. Any diagnosis of PGD ONE FM™ is treated individually and preceded by an examination of the material from the prospective parents. Under the procedure, a frozen embryos transfer (FET) is required.

We offer testing for all changes (mutations) in the nucleotide sequence such as:

  • single-nucleotide substitutions
  • deletions – up to 20 nucleotides
  • insertions – up to 20 nucleotides

Based on the current HGMD database (The Human Gene Mutation Database) - With PGD ONE FM™ we can perform diagnostic tests for almost 90% of all known mutations:

Why is it worth to perform PGD ONE FM™?

  • Possibility of diagnosing known genetic-based monogenic disease (most frequent mutations) at the embryo stage, and reducing the risk of its occurrence in your child
  • Possibility of conducting a PGDA NGS 360°™ (Preimplantation Genetic Screening) from a single sample (single biopsy) at the same time – reducing the risk of monogenic diseases (most frequent mutations) and genetic defects resulting from an abnormal number of chromosomes

Table 1. The most routinely sought point mutations in a PGD ONE FM™ preimplantation diagnosis
GeneName of the mutationType of the mutationMutation sizeDisease
Traditionalacc to HGVSProtein
CFTRF508delc.1521_1523delCTTp.Phe508deldeletion3Cystic Fibrosis [219700]
DHCR7452G>Ac.452G>Ap.Trp151*substitution1Smith-Lemli-Opitz syndrome [270400])
GJB235delGc.35delGp.Gly12Valfs*2deletion1Deafness [220290]
NBN657del5c.657_661delACAAAp.Lys219Asnfs*16deletion5Nijmegen breakage syndrome [251260]
TSC12332delATc.2111_2112delATp.Tyr704*deletion2Tuberous sclerosis complex [191100]
WASc.325_334del10bpc.325_334del10p.Ser108fs*16deletion10Wiskott-Aldrich syndrome [301000]
APC-c3807_c.3808delATp.lle1269Met*fs6deletion2Familial Adenomatous Polyposis, FAP [175100]
KRT14-c.374G>Ap.Arg125Hissubstitution1Epidermolysis bullosa simplex, EB [175100]
PMM2-c.385G>Ap.Val129Metsubstitution1Congenital disorder of glycosylation type Ia [212065]
COL1A1-c.2155G>Tp.Gly719Cyssubstitution1Osteogenesis imperfecta, OI [166200]
ASL-c.337C>Tp.Arg113Trpsubstitution1Argininosuccini caciduria, AS [207900]
PROP1c.301delAGc.301_302delAGp.Leu102Cysfs*8deletion2Pituitary hormone deficiency, combined, 2; CPHD2 [262600]
SCO2G1541Ac.418G>Ap.Glu140Lyssubstitution1Cardioencephalomyopathy, fatal infatile, due to cytochrome c oxidase deficiency 1 [604377]
ADSL-c.1277G>Ap.Arg426Hissubstitution1Adenylosuccinate lyase deficiency [608222]
CPS1-c.3697G>Cp.Ala1231Prosubstitution1Carbamoylphosphate synthetase I deficiency [237300]
NBS1657del5c.657_661delACAAAp.Lys219Asnfs*16deletion5Nijmegen breakage syndrome, NBS [251260]
LDLR-c.935_936delAGp.Glu312Valfs*19deletion2Hypercholesterolemia, familial [143890]
F8-c.530_540del10p.Tyr177Cysfs*18deletion10Hemophilia A;HEMA [306700]
DMD-c.5131C>Tp.Gln1711*substitution1Duchenne muscular dystrophy [310200]
HBB-c.20A>Tp.Glu7Valsubstitution1Sickle cell anemia [603903]
HBB-c.27dupGp.Ser10Valfs*14duplication1Thalassaemia beta [613985]
What are the indications for PGD ONE FM™?

  • People with a genetic test result confirming a clinical diagnosis of monogenic disease (most frequent mutation)
  • People with a genetic test result confirming the presence of mutation carriers
  • The presence of inherited genetic diseases or a history of specific mutation in the family

INVICTA Genetic Laboratory provides:
  • Specialist Collection Kit INVICTA PGD BIOPSY KIT™
  • Free transport
  • Online access to the results


PGD ONE FM™ is individually designed preimplantation genetic diagnosis for particular patients in order to exclude transmission to descendant a genetic feature proven to be a cause of disease by test results from genetic diagnostics laboratory. Performing PGD ONE FM™ does not exclude risk of genetic disease, which may be resulted from other factors, e.g. de novo mutations, undiagnosed mutations, or other genetic diseases.


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