| | 332048 | 5α-Reductase Deficiency Type 2 | SRD5A2 - Exon 1, SRD5A2 - Exon 2, SRD5A2 - Exon 3, SRD5A2 - Exon 4, SRD5A2 - Exon 5 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 331995 | ACE Mutation Analysis | ACE - I/D | Sequence analysis | AS, CVS, EDTA blood | 2-3ml | 10 |
| | 330041 | Achondroplasia / hypochondroplasia | FGFR3 - Exon 13, FGFR3 - Exon 15, FGFR3 - Exon 9, FGFR3 - Exon10 | Sequence analysis | AS, CVS, EDTA blood | 2-3ml | 15 |
| | 53330810 | Adenilosuccinate Deficiency | ADSL - Exon 1, ADSL - Exon 10, ADSL - Exon 11, ADSL - Exon 12, ADSL - Exon 13, ADSL - Exon 2, ADSL - Exon 3, ADSL - Exon 4, ADSL - Exon 5, ADSL - Exon 6, ADSL - Exon 7, ADSL - Exon 8, ADSL - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53300617 | Adenomatous polyposis coli / Gardner syndrome | APC - Exon 10, APC - Exon 11, APC - Exon 12, APC - Exon 13, APC - Exon 14, APC - Exon 15, APC - Exon 16, APC - Exon 2, APC - Exon 3, APC - Exon 4, APC - Exon 5, APC - Exon 6, APC - Exon 7, APC - Exon 8, APC - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 900160 | Adenosine Deaminase Deficiency | ADA - Exon 10, ADA - Exon 2, ADA - Exon 3, ADA - Exon 4, ADA - Exon 5, ADA - Exon 6, ADA - Exon 7, ADA - Exon 8, ADA - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53300627 | Adrenal hyperplasia, congenetal, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency | HSD3B2 - Exon 1, HSD3B2 - Exon 2, HSD3B2 - Exon 3, HSD3B2 - Exon 4 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3302011 | Adrenoleukodystrophy | ABCD1 - Exon 1, ABCD1 - Exon 10, ABCD1 - Exon 2, ABCD1 - Exon 3, ABCD1 - Exon 4, ABCD1 - Exon 5, ABCD1 - Exon 6, ABCD1 - Exon 7, ABCD1 - Exon 8, ABCD1 - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 5000105 | Adult Onset Diabetes (MODY) Panel | ABCC8, BLK, CEL, FOXP3, G6PC2, GCK, GLIS3, HNF1A, HNF1B, HNF4A, INS, KCNJ11, KLF11, NEUROD1, NEUROG3, NKX2-2, PAX4, PDX1, RFX6, ZFP57 | Next Generation Sequence | EDTA blood | 2-3 ml | 45 |
| | 331940 | Alpha Thalassemia - MLPA Analysis | HBA1-2 - Deletion/Duplication | MLPA Analysis | AS, CVS, EDTA blood | 2-3ml | 21 |
| | 333135 | Alpha Thalassemia - Sequencing Analysis | HBA - Exon 1, HBA - Exon 2, HBA - Exon 3 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300261 | Alpha-1-Antitrypsin (AAT) deficiency | SERPINA1 - S ve Z Allele | Sequence analysis | AS, CVS, EDTA blood | 2-3ml | 45 |
| | 53331690 | Ambiguous genetalia | NR5A1 - Whole Gene | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 53330900 | Androgen Insensitivity Syndrome | AR - Exon 1 - CAG repeat extension | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300562 | Anemia, sideroblastic, 1/ Protoporphyria, erythropoietic, X-linked | ALAS2 - Exon 10, ALAS2 - Exon 11, ALAS2 - Exon 2, ALAS2 - Exon 3, ALAS2 - Exon 4, ALAS2 - Exon 5, ALAS2 - Exon 6, ALAS2 - Exon 7, ALAS2 - Exon 8, ALAS2 - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300151 | Angelman/Prader Wili - MLPA Analysis | 15q11 - Deletion/Duplication | MLPA Analysis | AS, CVS, EDTA blood | 2-3ml | 21 |
| | 53300628 | Angioedema, hereditary, 3 / Factor XII deficiency | F12 - Exon 1, F12 - Exon 10, F12 - Exon 11, F12 - Exon 12, F12 - Exon 13, F12 - Exon 14, F12 - Exon 2, F12 - Exon 3, F12 - Exon 4, F12 - Exon 5, F12 - Exon 6, F12 - Exon 7, F12 - Exon 8, F12 - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 3300576 | Antley-Bixler syndrome without genetal anomalies or disordered steroidogenesis / Apert syndrome/ LADD syndrome | FGFR2 - Exon 10, FGFR2 - Exon 11, FGFR2 - Exon 12, FGFR2 - Exon 13, FGFR2 - Exon 14, FGFR2 - Exon 15, FGFR2 - Exon 16, FGFR2 - Exon 17, FGFR2 - Exon 18, FGFR2 - Exon 2, FGFR2 - Exon 3, FGFR2 - Exon 4, FGFR2 - Exon 5, FGFR2 - Exon 6, FGFR2 - Exon 7, FGFR2 - Exon 8, FGFR2 - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3 ml | 40 |
| | 332052 | Aortic aneurysm, familial thoracic 6 / Moyamoya disease 5 / Multisystemic smooth muscle dysfunction syndrome | ACTA2 - Exon 1, ACTA2 - Exon 2, ACTA2 - Exon 3, ACTA2 - Exon 4, ACTA2 - Exon 5, ACTA2 - Exon 6, ACTA2 - Exon 7, ACTA2 - Exon 8, ACTA2 - Exon 9 | Sequence analysis | AS, CVS, EDTA blood | 2-3ml | 40 |
| | 3300517 | ApoB - R3500Q | APOB - R3500Q | Sequence analysis | EDTA blood | 2-3ml | 10 |