Mikrogen Reproductive Genetics
Mikrogen Reproductive Genetics

Reproductive genetics, read with precision.

SNP-guided embryo testing and expanded carrier screening from a reproductive genetics laboratory accredited to ISO 15189 by TÜRKAK.

20+ yearsin reproductive genetics
600,000+patients tested
First in TürkiyeNGS-based embryo screening
ISO 15189TÜRKAK-accredited laboratory
Tests
01
PGT for aneuploidy
SNP‑Guided PGT‑A
Aneuploidy testing that also resolves ploidy status, DNA contamination and sibling identity from a single sequencing run.
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02
Multi-gene PGT‑M + PGT‑A
GenomeScope™ PGT‑M
Haplotype-based testing for monogenic conditions, particularly recommended when three or more genes are involved.
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03
PGT for structural rearrangements
GenomeScope™ PGT‑SR
Tells a balanced translocation carrier from a chromosomally normal embryo using family samples, not only presence of imbalance.
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04
Carrier screening
CarrierCheck™
Expanded carrier screening in 146- or 462-gene panels, with the confirmatory MLPA and Fragile X testing that hard-to-read genes need.
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More

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.

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PGT for aneuploidy

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.

What it reports
Whole-chromosome aneuploidyGains and losses by copy-number analysis.
Segmental changesStructural gains and losses down to 4 Mb.
Ploidy statusWhole-genome ploidy, including triploidy and haploidy, from the SNP layer.
Sibling identitySNP-based verification of sibling embryo relatedness.
DNA contaminationSNP analysis detects and flags evidence of DNA contamination; its maternal or external origin may not always be reliably resolved.
MosaicismMosaic chromosomal abnormalities are assessed according to the validated reporting thresholds of the assay.
Why SNP-guided PGT‑A
Ploidy statusGenome-wide detection of ploidy abnormalities, including triploidy and haploidy, using integrated SNP and CNV analysis.
Preventing contamination-related diagnosisAllele patterns reveal maternal carryover and foreign DNA contamination, so a contaminated sample is surfaced rather than mistaken for a result.
Sibling identity (embryo kinship) verifiedSNP haplotypes confirm sibling embryo relatedness across the cohort, a direct guard against sample mix-ups in the run, providing an additional layer of quality assurance.
Reported for every embryo
CNV result Ploidy status Transfer recommendation
Technical information and assay at a glance
Specimen
Trophectoderm biopsy
Platform
MGI DNBSEQ-G400 · WGS
Reference
GRCh37 / hg19
Resolution
Segmental ≥4 Mb
Analysis
Integrated CNV + SNP
Turnaround
30 days
Quality

Quality gate before interpretation: ≥3,500,000 unique reads, MAPD ≤0.15, SD ≤0.15, genome coverage ≥5%.

Limits

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.

Glossary
PGT‑A terms & definitions
PGT‑A, Preimplantation Genetic Testing for Aneuploidy
Testing of embryo biopsy samples to assess chromosome copy-number abnormalities prior to embryo transfer.
Normal (Euploid) Embryo
An embryo with two copies of each chromosome assessed, based on the assay’s validated copy-number calling thresholds.
Aneuploid Embryo
An embryo with an abnormal number of one or more chromosomes, resulting from chromosome gain or loss.
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.
CNV, Copy Number Variation
A gain or loss of genomic material resulting from a change in the copy number of a DNA segment.
Chromosome Segment Deletions and Duplications
Losses or gains involving a segment of a chromosome. The assay reports validated segmental abnormalities at ≥4 Mb.
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.
Triploidy
A whole-genome ploidy abnormality involving three complete sets of chromosomes.
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%.
WGA, Whole Genome Amplification
Amplification of small quantities of genomic DNA to generate sufficient material for downstream analysis.
NGS, Next-Generation Sequencing
High-throughput sequencing technology used to generate genomic data for analysis.
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Multi-gene PGT‑M + PGT‑A

GenomeScope™ PGT‑M

Genome-wide multi-gene PGT‑M with combined PGT‑A

Haplotype-based testing for monogenic conditions, run together with PGT‑A and kinship analysis in one workflow.

Embryo with a DNA helix and a subtle orange target marker
Where it fits

Enables simultaneous evaluation of multiple disease-associated genes within the same PGT‑M workflow.

What it reports
Monogenic disorders (PGT‑M)Per-gene status: unaffected, carrier or affected.
Aneuploidy (PGT‑A)Detects whole-chromosome and segmental changes across all 24 chromosomes.
Origin of AneuploidySNP-based analysis provides information on the meiotic or mitotic origin of aneuploidy.
PloidyTriploidy and haploidy from the SNP data.
ROH & UPDRegions of homozygosity and findings suggestive of uniparental disomy.
Embryo kinshipSNP-based kinship assessment to confirm genetic relatedness.
Why haplotype-based
One workflow, three analysesPGT‑M, PGT‑A and embryo kinship are performed from a single biopsy and sequencing run, characterising the whole cohort in one pass.
Multi-gene in a single testSimultaneous analysis of multiple disease-associated genes, enabling complex PGT‑M cases to be addressed within a single test.
Method reliabilityGenome-wide SNP-based linkage analysis enables robust haplotype reconstruction and tracking of the disease-associated allele across the family. The use of flanking markers minimizes the impact of allele drop-out, supporting a method reliability of 98–99%.
Reported for every embryo
Per-gene status Aneuploidy (PGT‑A) Ploidy status Transfer recommendation
Technical information and assay at a glance
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
Notes

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.

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PGT for structural rearrangements

GenomeScope™ PGT‑SR

Distinguishing balanced and unbalanced embryos in chromosomal translocation

GenomeScope PGT‑SR distinguishes balanced and unbalanced embryos and can identify embryos that have not inherited the parental translocation.

Blue and orange chromosomes illustrating exchanged chromosomal material
Why GenomeScope PGT‑SR

GenomeScope PGT‑SR goes beyond conventional translocation assessment by distinguishing balanced, unbalanced and chromosomally normal embryos. SNP-based haplotyping enables identification of embryos that have not inherited the parental translocation, providing additional information for embryo selection.

Comprehensive PGT‑A is performed within the same workflow, including ploidy, contamination and embryo kinship assessment.

What it reports
Translocation statusBalanced, unbalanced or chromosomally normal status for each embryo.
AneuploidyWhole-chromosome and segmental copy-number changes across all 24 chromosomes.
Embryo kinshipSNP-based kinship assessment to confirm genetic relatedness.
Technical information and assay at a glance
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
Notes

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.

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Carrier screening

CarrierCheck™

Expanded carrier screening for informed reproductive planning

Screening for autosomal-recessive and X-linked conditions across 146 or 462 genes to identify carriers and couples at risk for single-gene disorders.

Inheritance diagram: two carriers and four possible offspring outcomes
Two panels
CarrierCheck 146Targeted screening of 146 genes associated with inherited genetic conditions. Includes MLPA and Fragile X testing. Available as Solo or Duo.
CarrierCheck 462Targeted screening of 462 genes for broader carrier detection. Includes MLPA and Fragile X testing. Available as Solo or Duo.
What it covers
SNVs & indelsAcross every gene in the panel.
CNV detectionClinically relevant regions such as CFTR, DMD, HBB, HEXA and PAH.
SMN1/2 · HBA1/2 · CYP21A2Deletion and duplication by MLPA.
Fragile X (FMR1)CGG repeat expansion by TP‑PCR.
Exon-level CNVFor critical genes DMD and CFTR.
AR & X-linked disordersPathogenic and likely pathogenic variants.
Why CarrierCheck
Advanced analysis of technically challenging gene regionsPseudogene and homologous regions (SMN1, HBA1/HBA2, CYP21A2, GBA) are addressed with dedicated algorithms and MLPA, and FMR1 CGG repeat expansions by TP‑PCR, extending coverage beyond standard sequence variants.
Individual or couple-basedAvailable as Solo or Duo, supporting individual and couple-based interpretation, with donor-recipient genetic matching when required.
Actionable reportingVariant classification and residual-risk assessment incorporate ethnicity-specific estimates. Clinically relevant findings are interpreted and reported in the couple context.
Technical information and assay at a glance
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
Notes

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.

Gene panels

Both panels report pathogenic and likely pathogenic variants according to ACMG guidelines.

CarrierCheck 146 — gene list
146 genes · reporting: pathogenic / likely pathogenic
ABCA4ABCB11ABCD1ACADMACADVLACAT1ADAAGAAGLAGXTAIREALDH3A2ALDOBALPLARG1ARSAARSBASLASPAASS1ATMATP7BBBS1BBS10BBS4BCKDHABCKDHBBTDCAPN3CBSCEP290CFTRCLN3CLN5CLN8CLRN1CNGA3COL4A3COL4A4CPS1CPT1ACPT2CTNSCYP17A1CYP21A2DBTDHCR7DLDDMDDYSFEDAESCO2ETFAETFDHF8F9FAHFANCAFANCCFKTNG6PCGAAGALCGALNSGALTGBAGCDHGJB2GJB6GLAGLB1GLDCGNPTABGRHPRGUSBHADHAHAX1HBA1HBA2HBBHEXAHEXBHGSNATHMGCLHYAL1IDSIDUAIVDMAN2B1MCCC1MCCC2MCEEMCOLN1MEFVMLC1MMAAMMACHCMMADHCMMUTNAGLUNAGSNBNNDUFS4NEBNPC1NPHS1NPHS2OXTRPAHPCCAPCCBPCDH15PEX1PEX7PKHD1PMM2PPT1PRDX1PRF1PYGMRAG1RPE65SACSSAMHD1SERPINA1SGCASGCBSGSHSLC22A5SLC26A2SLC26A4SMN1SMPD1STX11STXBP2TCIRG1TGM1THTMEM216TPP1TTPATYRUGT1A1UNC13DUSH2AWAS
CarrierCheck 462 — gene list
reporting: pathogenic / likely pathogenic
ABCA4ABCB11ABCC8ABCD1ABCD4ACAD9ACADMACADSACADSBACADVLACAT1ACOX1ACSF3ADAADAMTS2ADGRG1ADKAGAAGLAGPSAGXTAHCYAHI1AIPL1AIREALDH3A2ALDH4A1ALDOBALG6ALMS1ALPLAMTAP1S2AQP2ARG1ARL13BARSAARSBARSEARXASLASNSASPAASS1ATMATP6V1B1ATP7AATP7BATRXBBS1BBS10BBS12BBS2BBS4BCHEBCKDHABCKDHBBCS1LBLMBRWD3BSNDBTDCANT1CAPN3CASQ2CBSCC2D1ACCDC103CCDC151CCDC39CD40LGCDH23CEP290CERKLCFTRCHMCHRNECHRNGCHST6CIITACLN3CLN5CLN6CLN8CLRN1CNGA1CNGA3CNGB1CNGB3COL27A1COL4A3COL4A4COL4A5COL7A1CPS1CPT1ACPT2CRADDCRB1CRYL1CTNSCTSKCUL4BCYBACYBBCYP11B1CYP11B2CYP17A1CYP19A1CYP1B1CYP21A2CYP27A1DBTDCLRE1CDCXDDX11DHCR7DHDDSDLDDLG3DMDDNAH5DNAI1DNAI2DNAL1DPYDDUOX2DUOXA2DYSFEDAEIF2AK3EIF2B5ELP1EMDERCC6ERCC8ESCO2ETFAETFBETFDHETHE1EVCEVC2EXOSC3EYSF11F2F5F8F9FAHFAM161AFANCAFANCCFANCGFGD1FHFKRPFKTNFMR1FTCDFTSJ1G6PCG6PDGAAGALCGALEGALK1GALNSGALTGAMTGBAGBE1GCDHGDAP1GFM1GH1GJB1GJB2GJB6GLAGLB1GLDCGLE1GNEGNPATGNPTABGNPTGGNRHRGNSGP1BAGP9GPR143GRHPRGUSBHADHAHAX1HBA1HBA2HBBHEXAHEXBHFEHGDHGSNATHJVHLCSHMGCLHOGA1HPS1HPS3HSD17B4HSD3B2HYAL1HYLS1IDH3BIDSIDUAIL1RAPL1IL2RGITGB3IVDIYDKCNJ11L1CAMLAMA2LAMA3LAMB3LAMC2LCA5LDLRAP1LHX3LIFRLIPALMBRD1LOXHD1LPLLRPPRCLYSTMAN2B1MCCC1MCCC2MCEEMCOLN1MED17MEFVMESP2MFSD8MKS1MLC1MMAAMMABMMACHCMMADHCMPIMPV17MTHFRMTM1MTMR2MTRRMTTPMUTMVKMYO7ANAGLUNAGSNBNNCF1NDPNDRG1NDUFAF6NDUFS4NDUFS6NEBNPC1NPC2NPHP1NPHS1NPHS2NR0B1NR2E3OATOCRLOPA3OPHN1OTCOTOFOXTRP3H1PAHPANK2PCPCBD1PCCAPCCBPCDH15PDE6APDHA1PDHBPEX1PEX10PEX12PEX2PEX6PEX7PFKMPGK1PHGDHPKHD1PLA2G6PLOD1PMM2POLGPOLR1CPOMGNT1POMT1POMT2POU3F4PPT1PQBP1PRDX1PREPLPRF1PROP1PRPS1PSAPPTSPUS1PYGMQDPRRAB23RAG1RAG2RAPSNRARS2RAXRDH12RMRPRP2RPE65RPGRRPGRIP1LRS1RTEL1SACSSAMD9SAMHD1SEPSECSSERPINA1SGCASGCBSGCDSGCGSGSHSH3TC2SLC12A3SLC12A6SLC16A2SLC17A5SLC22A5SLC25A13SLC25A15SLC25A20SLC26A2SLC26A3SLC26A4SLC35A3SLC37A4SLC39A4SLC3A1SLC46A1SLC4A11SLC5A5SLC6A19SLC6A8SLC7A7SMARCAL1SMN1SMPD1SPG11SPG7SPINK5STARSTRCSTX11STXBP2SUMF1SURF1SYN1TATTBCDTCIRG1TCTN2TECPR2TFR2TGTGM1THTHOC2TMC1TMEM216TPOTPP1TRDNTRIM32TRMUTSFMTSHBTTC37TTPATYMPTYRUGT1A1UNC13DUPF3BUSH1CUSH1GUSH2AVPS13AVPS13BVPS45VPS53VRK1VSX2WASWHRNWNT10AXPAXPCZDHHC9ZFYVE26ZNF711
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WES-based screening

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.

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Reference

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.