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

911 tests · Page 16 of 31

• Hemochromatosis (6-gene panel, NGS)

  Code 3356 · Next-generation sequencing (NGS)

  Genes: HAMP, HFE, HJV, SLC40A1, TFR2, FTH1

  Turnaround time: 33 working days

• Hemoglobinopathy D (3-gene panel, NGS)

  Code 10959 · Next-generation sequencing (NGS)

  Genes: HBB, HBG1, HBG2

  Turnaround time: 33 working days

• Hereditary female cancer (16 hereditary cancer types) (49-gene panel, NGS)

  Code 10042 · Next-generation sequencing (NGS)

  Genes: APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1 and 41 more

  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 hearing loss, autosomal recessive (AR) type 28 (TRIOBP gene, sequencing)

  Code 3318 · Sanger sequencing

  Genes: TRIOBP

  Turnaround time: 33 working days

• Hereditary male cancer (15 hereditary cancer types) (41-gene panel, NGS)

  Code 10043 · Next-generation sequencing (NGS)

  Genes: APC, AXIN2, BMPR1A, BRCA1, BRCA2, CDC73, CDH1, CDK4 and 33 more

  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 pancreatitis (SBDS gene, NGS)

  Code 11239 · Next-generation sequencing (NGS)

  Genes: SBDS

  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 sensory and autonomic neuropathy type 1A (SPTLC1 gene, NGS)

  Code 11172 · Next-generation sequencing (NGS)

  Genes: SPTLC1

  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 (9-gene panel, NGS)

  Code 10972 · Next-generation sequencing (NGS)

  Genes: HPS1, AP3B1, HPS3, HPS4, HPS5, HPS6, DTNBP1, BLOC1S3 and 1 more

  Turnaround time: 33 working days

• Hermansky-Pudlak syndrome (AP3B1 gene, NGS)

  Code 10964 · Next-generation sequencing (NGS)

  Genes: AP3B1

  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

• Heterotaxy (ACVR2B gene, NGS)

  Code 10976 · Next-generation sequencing (NGS)

  Genes: ACVR2B

  Turnaround time: 33 working days

• Heterotaxy and situs inversus (34-gene panel, NGS)

  Code 10978 · Next-generation sequencing (NGS)

  Genes: ACVR2B, ANKS6, ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40 and 26 more

  Turnaround time: 33 working days

• Heterotaxy (CFC1 gene, NGS)

  Code 10973 · Next-generation sequencing (NGS)

  Genes: CFC1

  Turnaround time: 33 working days

• Heterotaxy (LEFTY2 gene, NGS)

  Code 10974 · Next-generation sequencing (NGS)

  Genes: LEFTY2

  Turnaround time: 33 working days

• Heterotaxy (NODAL gene, NGS)

  Code 10975 · Next-generation sequencing (NGS)

  Genes: NODAL

  Turnaround time: 33 working days

• Heterotaxy (ZIC3 gene, NGS)

  Code 10977 · Next-generation sequencing (NGS)

  Genes: ZIC3

  Turnaround time: 33 working days