Test catalogue

Genetic tests available for sample collection at our units. Search by test name or gene, and filter by specialty.

This list is indicative: the availability and turnaround time of each test should be confirmed with the unit before collection. Results should always be interpreted by your doctor.

Results

197 tests · Page 4 of 7

• Hereditary colon cancer - 19-gene panel

  Code 4002 · NGS, Sanger sequencing, MLPA

  Genes: APC, BMPR1A, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH and 11 more

  Turnaround time: 30 working days

• Hereditary coproporphyria (CPOX gene, NGS)

  Code 10511 · Next-generation sequencing (NGS)

  Genes: CPOX

  Turnaround time: 33 working days

• Hereditary fructose intolerance (ALDOB gene, NGS)

  Code 10916 · Next-generation sequencing (NGS)

  Genes: ALDOB

  Turnaround time: 33 working days

• Hereditary gastric cancer - CDH1 gene

  Code 4005 · NGS, Sanger sequencing, MLPA

  Genes: CDH1

  Turnaround time: 30 working days

• Hereditary pancreatitis (10-gene panel, NGS)

  Code 11240 · Next-generation sequencing (NGS)

  Genes: APOA5, APOC2, CASR, CFTR, CPA1, CTRC, GPIHBP1, SBDS and 2 more

  Turnaround time: 33 working days

• Hereditary pancreatitis (5-gene panel, NGS)

  Code 3242 · Next-generation sequencing (NGS)

  Genes: PRSS1, PRSS2, SPINK1, CFTR, CTRC

  Turnaround time: 33 working days

• Hereditary pancreatitis (6-gene panel, NGS)

  Code 4041 · NGS, Sanger sequencing, MLPA

  Genes: PRSS1, PRSS2, SPINK1, CFTR, CTRC, CASR

  Turnaround time: 30 working days

• Hereditary pancreatitis (CFTR gene, NGS)

  Code 11238 · Next-generation sequencing (NGS)

  Genes: CFTR

  Turnaround time: 33 working days

• Hereditary pancreatitis (PRSS1 gene, NGS)

  Code 11235 · Next-generation sequencing (NGS)

  Genes: PRSS1

  Turnaround time: 33 working days

• Hereditary pancreatitis (SBDS gene, NGS)

  Code 11239 · Next-generation sequencing (NGS)

  Genes: SBDS

  Turnaround time: 33 working days

• Hereditary pancreatitis (SPINK1 gene, NGS)

  Code 11236 · Next-generation sequencing (NGS)

  Genes: SPINK1

  Turnaround time: 33 working days

• Hereditary pancreatitis (UBR1 gene, NGS)

  Code 11237 · Next-generation sequencing (NGS)

  Genes: UBR1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (18-gene panel, NGS)

  Code 11354 · Next-generation sequencing (NGS)

  Genes: ABCA3, AP3B1, BLOC1S6, DTNBP1, ELMOD2, HPS1, HPS3, HPS4 and 10 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (19-gene panel, NGS)

  Code 10081 · Next-generation sequencing (NGS)

  Genes: ABCA3, AP3B1, BLOC1S3, BLOC1S6, DTNBP1, ELMOD2, HPS1, HPS3 and 11 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (BLOC1S3 gene, NGS)

  Code 10970 · Next-generation sequencing (NGS)

  Genes: BLOC1S3

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (BLOC1S6 gene, NGS)

  Code 10971 · Next-generation sequencing (NGS)

  Genes: BLOC1S6

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (DTNBP1 gene, NGS)

  Code 10969 · Next-generation sequencing (NGS)

  Genes: DTNBP1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS1 gene, NGS)

  Code 10963 · Next-generation sequencing (NGS)

  Genes: HPS1

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS3 gene, NGS)

  Code 10965 · Next-generation sequencing (NGS)

  Genes: HPS3

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS4 gene, NGS)

  Code 10966 · Next-generation sequencing (NGS)

  Genes: HPS4

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS5 gene, NGS)

  Code 10967 · Next-generation sequencing (NGS)

  Genes: HPS5

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (HPS6 gene, NGS)

  Code 10968 · Next-generation sequencing (NGS)

  Genes: HPS6

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome type 2 (AP3B1 gene, NGS)

  Code 10962 · Next-generation sequencing (NGS)

  Genes: AP3B1

  Turnaround time: 33 working days

• Hyperlipoproteinemia type 1 (LPL gene, NGS)

  Code 10999 · Next-generation sequencing (NGS)

  Genes: LPL

  Turnaround time: 33 working days

• Hypolactasia (MCM6 gene, NGS)

  Code 11013 · Next-generation sequencing (NGS)

  Genes: MCM6

  Turnaround time: 33 working days

• Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (FOXP3 gene, NGS)

  Code 10653 · Next-generation sequencing (NGS)

  Genes: FOXP3

  Turnaround time: 33 working days

• Inborn errors of metabolism with hyperammonemia (49-gene panel, NGS)

  Code 10175 · Next-generation sequencing (NGS)

  Genes: ACADM, ACADS, ACADVL, ARG1, ASL, ASS1, BCKDHA, BCKDHB and 41 more

  Turnaround time: 33 working days

• Interleukin 28B (IL28B) [Genotype]

  Code 2227 · Molecular hybridization / PCR

  Genes: IL28B

  Turnaround time: 10 working days

• Isobutyryl-CoA dehydrogenase deficiency (isobutyric acidemia) (ACAD8 gene, NGS)

  Code 10571 · Next-generation sequencing (NGS)

  Genes: ACAD8

  Turnaround time: 33 working days

• Isovaleric acidemia (IVD gene, NGS)

  Code 10105 · Next-generation sequencing (NGS)

  Genes: IVD

  Turnaround time: 33 working days