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

258 tests · Page 6 of 9

• Hereditary bone marrow failure syndromes (51-gene panel, NGS)

  Code 10153 · Next-generation sequencing (NGS)

  Genes: BRCA2, BRIP1, CSF3R, CTC1, DKC1, ELANE, ERCC4, FANCA and 41 more

  Turnaround time: 33 working days

• Hereditary cerebral amyloid angiopathy (APP gene, NGS)

  Code 10276 · Next-generation sequencing (NGS)

  Genes: APP

  Turnaround time: 33 working days

• Hereditary cerebral amyloid angiopathy (CST3 gene, NGS)

  Code 10277 · Next-generation sequencing (NGS)

  Genes: CST3

  Turnaround time: 33 working days

• Hereditary coproporphyria (CPOX gene, NGS)

  Code 10511 · Next-generation sequencing (NGS)

  Genes: CPOX

  Turnaround time: 33 working days

• Hereditary elliptocytosis (EPB42 gene, NGS)

  Code 10819 · Next-generation sequencing (NGS)

  Genes: EPB42

  Turnaround time: 33 working days

• Hereditary elliptocytosis (SLC4A1 gene, NGS)

  Code 10822 · Next-generation sequencing (NGS)

  Genes: SLC4A1

  Turnaround time: 33 working days

• Hereditary elliptocytosis (SPTA1 gene, NGS)

  Code 10820 · Next-generation sequencing (NGS)

  Genes: SPTA1

  Turnaround time: 33 working days

• Hereditary elliptocytosis (SPTB gene, NGS)

  Code 10821 · Next-generation sequencing (NGS)

  Genes: SPTB

  Turnaround time: 33 working days

• Hereditary hemorrhagic telangiectasia type 2 (ACVRL1 gene, NGS)

  Code 11346 · Next-generation sequencing (NGS)

  Genes: ACVRL1

  Turnaround time: 33 working days

• Hereditary orotic aciduria (UMPS gene, NGS)

  Code 10129 · Next-generation sequencing (NGS)

  Genes: UMPS

  Turnaround time: 33 working days

• Hereditary persistence of fetal hemoglobin - beta-thalassemia (HBG2 gene, NGS)

  Code 11283 · Next-generation sequencing (NGS)

  Genes: HBG2

  Turnaround time: 33 working days

• Hereditary xerocytosis (PIEZO1 gene, NGS)

  Code 3309 · Next-generation sequencing (NGS)

  Genes: PIEZO1

  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

• Homocystinuria due to cystathionine beta-synthase deficiency (6-gene panel, NGS)

  Code 11036 · Next-generation sequencing (NGS)

  Genes: CBS, MMACHC, MMADHC, MTHFR, MTR, MTRR

  Turnaround time: 33 working days

• Homocystinuria due to cystathionine beta-synthase deficiency (CBS gene, NGS)

  Code 11035 · Next-generation sequencing (NGS)

  Genes: CBS

  Turnaround time: 33 working days

• Homocystinuria, ile278Thr and Gly3076Ser mutation, CBS gene

  Code 10374 · Next-generation sequencing (NGS)

  Genes: CBS

  Turnaround time: 33 working days

• Hyperhomocysteinemia (MTHFR gene, NGS)

  Code 10995 · Next-generation sequencing (NGS)

  Genes: MTHFR

  Turnaround time: 33 working days

• IgVH hypermutation, sequencing

  Code 3223 · Sequencing

  Genes: IgVH

  Turnaround time: 24 working days

• Iron-refractory iron deficiency anemia (TMPRSS6 gene, NGS)

  Code 10259 · Next-generation sequencing (NGS)

  Genes: TMPRSS6

  Turnaround time: 33 working days

• KaryoFISH

  Code 3205 · Cytogenetic analysis

  Genes: CGH

  Turnaround time: 15 working days