Reproductive genetics, read with precision.
SNP-guided embryo testing and expanded carrier screening from a reproductive genetics laboratory accredited to ISO 15189 by TÜRKAK.
WES-based screening
Whole-exome carrier screening, partner-targeted analysis, exome re-analysis and the infertility panel combinations.
General PGT information
Background on preimplantation genetic testing: PGT‑A, PGT‑M, PGT‑SR and combined PGT, for reference.
SNP‑Guided PGT‑A
Genome-wide SNP and copy-number analysis
One sequencing run, read two ways: copy number for aneuploidy, and a genome-wide SNP layer for ploidy, contamination and identity.
- Specimen
- Trophectoderm biopsy
- Platform
- MGI DNBSEQ-G400 · WGS
- Reference
- GRCh37 / hg19
- Resolution
- Segmental ≥4 Mb
- Analysis
- Integrated CNV + SNP
- Turnaround
- 30 days
Quality gate before interpretation: ≥3,500,000 unique reads, MAPD ≤0.15, SD ≤0.15, genome coverage ≥5%.
The assay does not detect balanced rearrangements and cannot distinguish a balanced carrier from a normal complement. Low-level mosaicism under 20% may not be detected. Full result categories, methodology and limitations are provided with the test report; genetic counselling is recommended before transfer.
PGT-A terms & definitions
- Aneuploid Embryo
- An embryo with an abnormal number of one or more chromosomes, resulting from chromosome gain or loss.
- Chromosome Segment Deletions and Duplications
- Losses or gains involving a segment of a chromosome. The assay reports validated segmental abnormalities at ≥4 Mb.
- CNV, Copy Number Variation
- A gain or loss of genomic material resulting from a change in the copy number of a DNA segment.
- DNA Contamination
- The presence of DNA from a source other than the embryo in the analyzed sample. SNP-based analysis can detect patterns suggestive of contamination, helping identify potentially compromised samples before interpretation.
- Embryo Kinship / Sibling Identity
- SNP-based assessment of genetic relatedness between embryos, providing an analytical quality-control measure to confirm expected sibling relationships.
- Haploidy
- A whole-genome ploidy abnormality involving a single complete set of chromosomes.
- Mosaicism
- Presence of both euploid and aneuploid cell populations. Detection range: 20–80% abnormal cell fraction. Classification: Low-level 20–40%, Moderate-level >40–60%, High-level >60–80%.
- NGS, Next-Generation Sequencing
- High-throughput sequencing technology used to generate genomic data for analysis.
- Normal (Euploid) Embryo
- An embryo with two copies of each chromosome assessed, based on the assay’s validated copy-number calling thresholds.
- PGT-A, Preimplantation Genetic Testing for Aneuploidy
- Testing of embryo biopsy samples to assess chromosome copy-number abnormalities prior to embryo transfer.
- Ploidy Status
- The number of complete chromosome sets in a cell or embryo. In this assay, SNP information is used to assess whole-genome ploidy abnormalities such as triploidy and haploidy.
- SNP, Single Nucleotide Polymorphism
- A single-base variation at a specific genomic position. Genome-wide SNP information is used within the assay for ploidy assessment and analytical quality-control applications.
- SNP-Guided PGT-A
- A PGT-A approach combining copy-number analysis with genome-wide SNP information to assess chromosomal abnormalities and whole-genome ploidy, with SNP-based analytical quality-control capabilities including contamination assessment and sibling-identity verification.
- Triploidy
- A whole-genome ploidy abnormality involving three complete sets of chromosomes.
- WGA, Whole Genome Amplification
- Amplification of small quantities of genomic DNA to generate sufficient material for downstream analysis.
- WGS, Whole Genome Sequencing
- A sequencing approach that generates genomic data across the genome. In this assay, WGS-derived data are analyzed for integrated copy-number and SNP information.
- Whole-Chromosome Aneuploidy
- Gain or loss of an entire chromosome, resulting in an abnormal chromosome copy number.
GenomeScope™ PGT‑M
Comprehensive multi-gene PGT-M with combined PGT-A and PGT-SR analysis
Genome-wide testing for monogenic conditions, run together with PGT-A, PGT-SR and kinship analysis in one workflow.
Ideal when two or more genetic conditions need to be tested simultaneously, improving cost-effectiveness and workflow efficiency by delivering comprehensive PGT-M and PGT-A results from a single analysis.
- Specimen
- Trophectoderm biopsy
- Platform
- Genie Sequencer
- Assay / workflow
- Genie-Plus
- Reference
- GRCh37 / hg19
- Resolution
- ≥4 Mb · ROH ≥5 Mb
- Capacity
- Up to 12 embryos
- Reliability
- 98–99%
- Turnaround
- 10 days
PGT‑A findings are reported alongside the PGT‑M result and cannot drive transfer decisions on their own. Mutation detection uses SNP-based linkage analysis and log-likelihood-ratio calculations.
Genetic counselling is recommended, especially for carrier or mosaic embryos. Full methodology and limitations are provided with the test report.
PGT-M terms & definitions
- Allele Drop-Out (ADO)
- Failure to amplify one of the two alleles at a genetic locus during DNA amplification, which may lead to incomplete genotype information. Haplotype-based analysis using flanking markers helps reduce the impact of allele drop-out.
- Aneuploid Embryo
- An embryo with an abnormal number of one or more chromosomes, resulting from chromosome gain or loss.
- Carrier Embryo
- An embryo that carries a disease-associated variant but is not expected to be affected by the associated recessive condition. The variant may be passed on to the next generation.
- Embryo Kinship
- SNP-based assessment of genetic relatedness between embryos, providing an analytical quality-control measure to confirm expected sibling relationships.
- Haploidy
- A whole-genome ploidy abnormality involving a single complete set of chromosomes.
- Haplotype
- A group of genetic variants located on the same chromosome that tend to be inherited together. In PGT-M, haplotypes are used to track the inheritance of disease-associated alleles within a family.
- Linkage Analysis
- Analysis of genetic markers located near a disease-associated gene or variant to track its inheritance within a family. In PGT-M, genome-wide SNP information is used for linkage analysis and haplotype reconstruction.
- Meiotic Origin of Aneuploidy
- A chromosomal abnormality originating during meiosis, the cell division process that produces eggs or sperm.
- Mitotic Origin of Aneuploidy
- A chromosomal abnormality arising during mitotic cell division after fertilization, during early embryo development.
- Monogenic Disorder
- A genetic disorder primarily caused by a disease-associated variant in a single gene.
- Normal (Euploid) Embryo
- An embryo with two copies of each chromosome assessed, based on the assay’s validated copy-number calling thresholds.
- PGT-A, Preimplantation Genetic Testing for Aneuploidy
- Testing of embryo biopsy samples to assess chromosome copy-number abnormalities prior to embryo transfer.
- PGT-M, Preimplantation Genetic Testing for Monogenic Disorders
- Testing of embryo biopsy samples to assess the inheritance of disease-associated genetic variants associated with monogenic conditions prior to embryo transfer.
- Ploidy Status
- The number of complete chromosome sets in a cell or embryo. In this assay, SNP information is used to assess whole-genome ploidy abnormalities such as triploidy and haploidy.
- ROH, Region of Homozygosity
- A genomic region in which the two chromosome copies contain identical or highly similar genetic information across a continuous segment. Extended ROH may provide information relevant to parental relatedness or other genomic findings.
- SNP, Single Nucleotide Polymorphism
- A single-base variation at a specific genomic position. Genome-wide SNP information is used within the assay for ploidy assessment and analytical quality-control applications.
- Triploidy
- A whole-genome ploidy abnormality involving three complete sets of chromosomes.
- UPD, Uniparental Disomy
- A genetic finding in which both copies of a chromosome, or part of a chromosome, are inherited from one parent instead of one copy from each parent. The assay may identify findings suggestive of UPD through SNP-based analysis.
- WGA, Whole Genome Amplification
- Amplification of small quantities of genomic DNA to generate sufficient material for downstream analysis.
GenomeScope™ PGT‑SR
Distinguishing normal embryos from balanced translocation carriers
GenomeScope PGT‑SR distinguishes balanced and unbalanced embryos and can identify embryos that have not inherited the parental translocation.
GenomeScope PGT-SR identifies balanced and unbalanced embryos and, through SNP-based haplotyping, distinguishes chromosomally normal (translocation-free) embryos from balanced embryos carrying the parental translocation.
- Specimen
- Trophectoderm biopsy
- Family samples
- Upper-generation blood
- Platform
- Genie Sequencer
- Assay / workflow
- Genie-Plus
- CNV resolution
- >4 Mb unknown; >1 Mb known inherited
- Screening
- All 24 chromosomes
- Case input
- Karyotype report
- Turnaround
- 10 days
A karyotype report for the couple is required to set up the case. The method used (FISH- or NGS-based) is chosen by the geneticist according to the specific rearrangement.
Genetic counselling is recommended, and prenatal confirmation is advised for established pregnancies. Full methodology and limitations are provided with the report.
PGT-SR terms & definitions
- Aneuploid Embryo
- An embryo with an abnormal number of one or more chromosomes, resulting from chromosome gain or loss.
- Balanced Embryo
- An embryo that has inherited the parental balanced chromosomal rearrangement without a net gain or loss of genetic material.
- Chromosomally Normal Embryo
- An embryo that has not inherited the parental chromosomal rearrangement and has no associated chromosomal imbalance detected by the assay.
- Chromosome Segment Deletions and Duplications
- Losses or gains involving a segment of a chromosome. The assay reports validated segmental abnormalities at ≥4 Mb.
- CNV, Copy Number Variation
- A gain or loss of genomic material resulting from a change in the copy number of a DNA segment.
- Embryo Kinship
- SNP-based assessment of genetic relatedness between embryos, providing an analytical quality-control measure to confirm expected sibling relationships.
- Haplotyping
- Analysis of groups of genetic variants inherited together to track the inheritance of a specific parental chromosome or chromosomal rearrangement.
- Karyotype
- A laboratory assessment of chromosome number and structure. In PGT-SR, the parental karyotype defines the chromosomal rearrangement used for case setup.
- Normal (Euploid) Embryo
- An embryo with two copies of each chromosome assessed, based on the assay’s validated copy-number calling thresholds.
- PGT-A, Preimplantation Genetic Testing for Aneuploidy
- Testing of embryo biopsy samples to assess chromosome copy-number abnormalities prior to embryo transfer.
- PGT-SR, Preimplantation Genetic Testing for Structural Rearrangements
- Testing of embryo biopsy samples to assess chromosomal imbalances associated with parental structural rearrangements prior to embryo transfer.
- SNP, Single Nucleotide Polymorphism
- A single-base variation at a specific genomic position. Genome-wide SNP information is used within the assay for ploidy assessment and analytical quality-control applications.
- Translocation
- A structural chromosomal rearrangement in which genetic material is exchanged or relocated between chromosomes. A translocation may be balanced, with no net gain or loss of genetic material, or unbalanced, with chromosomal material gained or lost.
- Unbalanced Embryo
- An embryo with a chromosomal imbalance resulting from the parental structural rearrangement, involving a gain and/or loss of genetic material.
- WGA, Whole Genome Amplification
- Amplification of small quantities of genomic DNA to generate sufficient material for downstream analysis.
CarrierCheck™
Expanded carrier screening for informed reproductive planning
Identifies individual carrier status and couple-level reproductive risk for inherited single-gene disorders through comprehensive analysis of autosomal-recessive and X-linked conditions.
- Specimen
- EDTA blood
- Platform
- MGI DNBSEQ-G400 (Twist)
- Methods
- NGS combined with MLPA + TP‑PCR
- Format
- Solo or Duo
- Reporting
- Pathogenic / likely pathogenic (ACMG)
- Analysis
- Franklin by Genoox
- Turnaround
- 30 days
A negative result reduces but does not remove residual risk.
Full gene lists, methodology and limitations are provided with the test report. Genetic counselling is recommended.
Both panels report pathogenic and likely pathogenic variants according to ACMG guidelines.
CarrierCheck 146 — gene list
CarrierCheck 462 — gene list
Carrier screening terms & definitions
- ACMG (American College of Medical Genetics and Genomics)
- A professional organization that develops widely used standards and guidelines for the interpretation and classification of genetic variants.
- Autosomal Recessive (AR) Inheritance
- An inheritance pattern in which an individual typically needs to inherit a disease-causing variant in both copies of a gene to develop the condition.
- Carrier
- An individual who carries a disease-associated variant but may not show signs or symptoms of the associated recessive condition.
- CNV (Copy Number Variant)
- A genetic alteration in which a segment of DNA is deleted or duplicated, resulting in a change in the number of copies of that region.
- Exon-Level CNV
- A deletion or duplication involving one or more exons within a gene.
- FMR1 CGG Repeat Expansion
- An abnormal increase in the number of CGG repeats in the FMR1 gene associated with Fragile X-related disorders.
- Homologous Region
- A genomic region with high sequence similarity to another region of the genome, which can complicate accurate sequencing and variant detection.
- Indel (Insertion/Deletion)
- A genetic variant involving the insertion or deletion of one or more nucleotides in the DNA sequence.
- MLPA (Multiplex Ligation-dependent Probe Amplification)
- A targeted molecular method used to detect deletions and duplications in selected genomic regions.
- P/LP (Pathogenic / Likely Pathogenic)
- Variants classified as pathogenic or likely pathogenic based on available scientific and clinical evidence and associated with disease or reproductive risk.
- Pseudogene
- A DNA sequence that is highly similar to a functional gene but generally does not encode a functional protein. Its similarity to the target gene can make genetic analysis technically challenging.
- Residual Risk
- The remaining genetic risk after a negative carrier screening result. A negative result reduces, but does not eliminate, genetic risk.
- SNV (Single-Nucleotide Variant)
- A change affecting a single nucleotide at a specific position in the DNA sequence.
- TP-PCR (Triplet-Primed PCR)
- A PCR-based method used to detect nucleotide repeat expansions, such as CGG repeat expansions in FMR1.
- X-Linked Inheritance
- An inheritance pattern involving a gene located on the X chromosome, with disease risk and clinical expression influenced by biological sex and the specific condition.
Whole-exome tests
Broader carrier and reproductive-risk assessment built on whole-exome sequencing, with couple-based interpretation.
Comprehensive Carrier Screening (WES)
Pathogenic and likely pathogenic variants across all genes at the whole-exome level, with peripheral-blood karyotyping, MLPA (SMN1, DMD, HBA1/HBA2, CYP21A2), Fragile X, and ACMG secondary findings. Solo or Duo. Existing exome data can be re-analysed as knowledge advances.
Infertility + Carrier panels
Female infertility (224 genes) and male infertility (185 genes) combined with CarrierCheck 462, as C1 (female), C2 (male) or C3 (couple, Duo). Exome-based NGS with karyotype, MLPA and TP‑PCR; couple-based interpretation that can feed PGT‑M setup and donor matching. Turnaround 30 days.
WES-based targeted analysis
Targeted assessment of the specific gene or genes identified in a partner's carrier-screening report, with full sequence analysis of the relevant genes. Gene names and clinical indication are required.
Re-analysis of existing exome data
Whole-exome data previously generated at Mikrogen, re-evaluated against current genetic databases, without new sequencing.
The intronic GJB2 variant c.-23+1G>A is not covered by the exome-based test; targeted GJB2 analysis should be requested separately if clinically suspected. Carrier screening reduces but does not remove residual risk.
General PGT information
Background on preimplantation genetic testing, for reference. Mikrogen's current PGT‑A and structural testing is delivered through the SNP-based products above.
PGT
Preimplantation genetic testing helps families have unaffected children by determining genetic disorders in embryos before transfer, with the advantage of starting a pregnancy from an unaffected embryo rather than confirming after conception.
PGT‑A — aneuploidy
Screening the chromosomal constitution of embryos to identify and select euploid embryos for transfer. Applied in advanced maternal age, recurrent miscarriage with a normal karyotype, implantation failure, severe male infertility and a history of aneuploid pregnancy.
PGT‑M — monogenic disorders
A diagnosis applied to embryos to exclude a mutation of interest, so single-gene disease carrier couples can have unaffected children. Covers autosomal-recessive, X-linked and autosomal-dominant conditions and hereditary cancers, and supports HLA typing for selecting an HLA-matched sibling. Requires a mutation report and a preliminary setup.
PGT‑SR — structural rearrangements
Selection of balanced or normal embryos for couples carrying reciprocal or Robertsonian translocations or inversions. PGT‑SR is performed using FISH or NGS depending on the couple’s karyotype. NGS-based PGT‑SR also enables screening of all 24 chromosomes.
Combined PGT
Single-gene disease testing and 24-chromosome aneuploidy screening on a single biopsy, since chromosomal disorders are frequently observed in embryos otherwise suitable for transfer after PGT‑M.
Genetic counselling
Selection of the most appropriate test and evaluation of results with Mikrogen's doctors and geneticists, by phone or in person.