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

151 tests · Page 3 of 6

• Gorlin syndrome (SUFU gene, NGS)

  Code 10951 · Next-generation sequencing (NGS)

  Genes: SUFU

  Turnaround time: 33 working days

• Hemochromatosis (HFE gene, NGS)

  Code 10981 · Next-generation sequencing (NGS)

  Genes: HFE

  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

• Hydrolethalus syndrome (HYLS1 gene, NGS)

  Code 10984 · Next-generation sequencing (NGS)

  Genes: HYLS1

  Turnaround time: 33 working days

• Hyper-IgE syndrome (STAT3 gene, NGS)

  Code 10985 · Next-generation sequencing (NGS)

  Genes: STAT3

  Turnaround time: 33 working days

• Idiopathic pulmonary fibrosis (SFTPC gene, NGS)

  Code 10926 · Next-generation sequencing (NGS)

  Genes: SFTPC

  Turnaround time: 33 working days

• Idiopathic pulmonary fibrosis (TERT gene, NGS)

  Code 10927 · Next-generation sequencing (NGS)

  Genes: TERT

  Turnaround time: 33 working days

• Joubert syndrome (41-gene panel, NGS)

  Code 10078 · Next-generation sequencing (NGS)

  Genes: AHI1, ARL13B, ARMC9, B9D1, B9D2, C2CD3, CC2D2A, CEP104 and 33 more

  Turnaround time: 33 working days

• Joubert syndrome type 10 (OFD1 gene, NGS)

  Code 11054 · Next-generation sequencing (NGS)

  Genes: OFD1

  Turnaround time: 33 working days

• Joubert syndrome type 12 (KIF7 gene, NGS)

  Code 11055 · Next-generation sequencing (NGS)

  Genes: KIF7

  Turnaround time: 33 working days

• Joubert syndrome type 1 (INPP5E gene, NGS)

  Code 11056 · Next-generation sequencing (NGS)

  Genes: INPP5E

  Turnaround time: 33 working days

• Joubert syndrome type 2 (TMEM216 gene, NGS)

  Code 11057 · Next-generation sequencing (NGS)

  Genes: TMEM216

  Turnaround time: 33 working days

• Joubert syndrome type 4 (NPHP1 gene, NGS)

  Code 11059 · Next-generation sequencing (NGS)

  Genes: NPHP1

  Turnaround time: 33 working days

• Joubert syndrome type 5 (CEP290 gene, NGS)

  Code 11060 · Next-generation sequencing (NGS)

  Genes: CEP290

  Turnaround time: 33 working days

• Joubert syndrome type 6 (TMEM67 gene, NGS)

  Code 11061 · Next-generation sequencing (NGS)

  Genes: TMEM67

  Turnaround time: 33 working days

• Joubert syndrome type 7 (RPGRIP1L gene, NGS)

  Code 11062 · Next-generation sequencing (NGS)

  Genes: RPGRIP1L

  Turnaround time: 33 working days

• Joubert syndrome type 8 (ARL13B gene, NGS)

  Code 11063 · Next-generation sequencing (NGS)

  Genes: ARL13B

  Turnaround time: 33 working days

• Joubert syndrome type 9 (CC2D2A gene, NGS)

  Code 11064 · Next-generation sequencing (NGS)

  Genes: CC2D2A

  Turnaround time: 33 working days

• Lung fusions, 4 genes, liquid biopsy

  Code 4416 · Next-generation sequencing (NGS)

  Genes: Análise de transcritos de fusão envolvendo os genes ALK,RET,ROS1 e NTRK1 por NGS em biópsia líquida

  Turnaround time: 30 working days

• Lung fusions, 4 genes, tissue biopsy

  Code 4415 · Next-generation sequencing (NGS)

  Genes: ALK, ROS1, RET, NTRK1

  Turnaround time: 30 working days