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

77 tests · Page 2 of 3

• Fanconi anemia (BRIP1 gene, NGS)

  Code 10243 · Next-generation sequencing (NGS)

  Genes: BRIP1

  Turnaround time: 33 working days

• Fanconi anemia (FANCA gene, NGS)

  Code 10239 · Next-generation sequencing (NGS)

  Genes: FANCA

  Turnaround time: 33 working days

• Fanconi anemia (FANCB gene, NGS)

  Code 10247 · Next-generation sequencing (NGS)

  Genes: FANCB

  Turnaround time: 33 working days

• Fanconi anemia (FANCC gene, NGS)

  Code 10240 · Next-generation sequencing (NGS)

  Genes: FANCC

  Turnaround time: 33 working days

• Fanconi anemia (FANCE gene, NGS)

  Code 10248 · Next-generation sequencing (NGS)

  Genes: FANCE

  Turnaround time: 33 working days

• Fanconi anemia (FANCF gene, NGS)

  Code 10249 · Next-generation sequencing (NGS)

  Genes: FANCF

  Turnaround time: 33 working days

• Fanconi anemia (FANCG gene, NGS)

  Code 10252 · Next-generation sequencing (NGS)

  Genes: FANCG

  Turnaround time: 33 working days

• Fanconi anemia (FANCI gene, NGS)

  Code 10242 · Next-generation sequencing (NGS)

  Genes: FANCI

  Turnaround time: 33 working days

• Fanconi anemia (FANCL gene, NGS)

  Code 10244 · Next-generation sequencing (NGS)

  Genes: FANCL

  Turnaround time: 33 working days

• Fanconi anemia (FANCM gene, NGS)

  Code 10245 · Next-generation sequencing (NGS)

  Genes: FANCM

  Turnaround time: 33 working days

• Fanconi anemia (PALB2 gene, NGS)

  Code 10246 · Next-generation sequencing (NGS)

  Genes: PALB2

  Turnaround time: 33 working days

• Fanconi anemia (RAD51C gene, NGS)

  Code 10250 · Next-generation sequencing (NGS)

  Genes: RAD51C

  Turnaround time: 33 working days

• Fanconi anemia (SLX4 gene, NGS)

  Code 10251 · Next-generation sequencing (NGS)

  Genes: SLX4

  Turnaround time: 33 working days

• Genetic testing of KIR receptors

  Code 3238 · PCR

  Genes: GENÓTIPO DE RECEPTORES KIR POR PCR-SSP

  Turnaround time: 23 working days

• GutHealth - Gut microbiome (NGS)

  Code 3286 · Next-generation sequencing (NGS)

  Genes: GutHealth - Microbioma Intestinal (NGS)

  Turnaround time: 15 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

• Histocompatibility antigen HLA locus B

  Code 2221 · PCR

  Genes: HLA

  Turnaround time: 24 working days

• Hyper-IgE syndrome (STAT3 gene, NGS)

  Code 10985 · Next-generation sequencing (NGS)

  Genes: STAT3

  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

• Incontinentia pigmenti (exons 4-10 deletion, IKBKG gene, sequencing)

  Code 3250 · Sanger sequencing

  Genes: del exões 4-10, gene IKBKG

  Turnaround time: 33 working days