Genetics Knowledge Center
Genetic Test Directory
A comprehensive, searchable list of laboratory services at Gene Negar Ayandegan.
| Test name | Method | Sample | Indications | Genes | Related diseases | Turnaround | Report type | Submit sample |
|---|---|---|---|---|---|---|---|---|
| Whole Exome Sequencing | NGS | EDTA blood | Rare diseases, developmental delay | 20,000+ | Mendelian diseases | To Be Added | Clinical | Submit sample → |
| Whole Genome Sequencing | NGS | EDTA blood | Complex/research cases | All | Rare diseases | To Be Added | Clinical/Research | Submit sample → |
| Clinical Exome Sequencing | NGS | EDTA blood | Known inherited conditions | ~6,000 | Mendelian diseases | To Be Added | Clinical | Submit sample → |
| NGS Cancer Panel | NGS | FFPE/tissue/ctDNA | Targeted therapy selection | Custom | Solid and hematologic tumors | To Be Added | Oncology | Submit sample → |
| Hereditary Cancer Panel | NGS + MLPA | EDTA blood | Family history of cancer | BRCA, TP53, MMR, etc. | Hereditary cancer syndromes | To Be Added | Clinical | Submit sample → |
| BRCA1/BRCA2 Testing | Sanger/NGS + MLPA | EDTA blood | Breast/ovarian risk | BRCA1, BRCA2 | Breast, ovarian cancer | To Be Added | Clinical | Submit sample → |
| Sanger Sequencing | Sanger | DNA/PCR product | Variant confirmation | Targeted | Various | To Be Added | Clinical/Research | Submit sample → |
| Fragment Analysis | Capillary | DNA | STR, repeats | Targeted | Huntington, Fragile X | To Be Added | Clinical | Submit sample → |
| MLPA | MLPA | DNA | Exon-level CNVs | Kit-specific | DMD, SMA, BRCA | To Be Added | Clinical | Submit sample → |
| QF-PCR | QF-PCR | Amnio/CVS | Rapid aneuploidy | 13/18/21/X/Y | Down, Edwards, Patau | To Be Added | Clinical | Submit sample → |
| NIPT | NGS cfDNA | Maternal blood | Prenatal screening | — | Common trisomies | To Be Added | Screening | Submit sample → |
| Carrier Screening | NGS | EDTA blood | Pre-marriage/conception | Multiple | Thalassemia, SMA, CF | To Be Added | Screening | Submit sample → |
| PGT-A | NGS | Embryo biopsy | IVF, RPL | — | Aneuploidy | To Be Added | Clinical | Submit sample → |
| PGT-M | PCR/NGS | Embryo biopsy + parents | Monogenic disease | Family-specific | Thalassemia, DMD, CF | To Be Added | Clinical | Submit sample → |
| STR/HID Testing | Capillary | Blood/swab/FTA | Paternity, kinship | STR loci | — | To Be Added | Identity | Submit sample → |
| Y Chromosome Microdeletion | PCR | EDTA blood | Male infertility | AZF a/b/c | Male infertility | To Be Added | Clinical | Submit sample → |
| Mitochondrial DNA Testing | NGS | Blood/muscle | Mitochondrial disease | mtDNA | MELAS, MERRF, LHON | To Be Added | Clinical | Submit sample → |
| Pharmacogenomics | NGS/PCR | Blood/saliva | Drug selection | CYP2D6, CYP2C19, etc. | Various | To Be Added | Clinical | Submit sample → |
| Thalassemia Mutation Analysis | Sanger/NGS/MLPA | EDTA blood | Diagnosis and screening | HBB, HBA1, HBA2 | Thalassemia | To Be Added | Clinical | Submit sample → |
| SMA Testing | MLPA | EDTA blood | SMA diagnosis/carrier | SMN1, SMN2 | SMA | To Be Added | Clinical | Submit sample → |
| DMD Deletion/Duplication | MLPA + Sanger | EDTA blood | DMD diagnosis | DMD | DMD/BMD | To Be Added | Clinical | Submit sample → |
| Fragile X Testing | Fragment + PCR | EDTA blood | ID/autism | FMR1 | Fragile X | To Be Added | Clinical | Submit sample → |
| Hemophilia Genetic Testing | Sanger/NGS/inversion PCR | EDTA blood | Hemophilia A/B | F8, F9 | Hemophilia | To Be Added | Clinical | Submit sample → |
| Lynch Syndrome Panel | NGS + MLPA | EDTA blood | CRC family history | MLH1, MSH2, MSH6, PMS2, EPCAM | Lynch syndrome | To Be Added | Clinical | Submit sample → |
| Recurrent Pregnancy Loss Panel | Karyotype + NGS | Parental blood/POC | RPL | Various | Genetic causes of loss | To Be Added | Clinical | Submit sample → |
| Male Infertility Panel | PCR + Karyotype | EDTA blood | Azoospermia/oligospermia | AZF, CFTR | Male infertility | To Be Added | Clinical | Submit sample → |