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

52 tests · Page 1 of 2

• Alport syndrome (3-gene panel, NGS)

  Code 10211 · Next-generation sequencing (NGS)

  Genes: COL4A3, COL4A4, COL4A5

  Turnaround time: 33 working days

• Alport syndrome (COL4A3 gene, NGS)

  Code 10212 · Next-generation sequencing (NGS)

  Genes: COL4A3

  Turnaround time: 33 working days

• Alport syndrome (COL4A4 gene, NGS)

  Code 10213 · Next-generation sequencing (NGS)

  Genes: COL4A4

  Turnaround time: 33 working days

• Alport syndrome (X-linked) (COL4A5 gene, NGS)

  Code 10214 · Next-generation sequencing (NGS)

  Genes: COL4A5

  Turnaround time: 33 working days

• Alström syndrome (ALMS1 gene, NGS)

  Code 10215 · Next-generation sequencing (NGS)

  Genes: ALMS1

  Turnaround time: 33 working days

• Apert syndrome, p.Ser252Trp and p.Pro253Arg mutations, FGFR2 gene sequencing

  Code 10284 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• ATR-X syndrome (ATRX gene, NGS)

  Code 10330 · Next-generation sequencing (NGS)

  Genes: ATRX

  Turnaround time: 33 working days

• Autosomal dominant cerebellar ataxia, hearing loss and narcolepsy (DNMT1 gene, NGS)

  Code 10299 · Next-generation sequencing (NGS)

  Genes: DNMT1

  Turnaround time: 33 working days

• Beals syndrome (congenital contractural arachnodactyly) (FBN2 gene, NGS)

  Code 10369 · Next-generation sequencing (NGS)

  Genes: FBN2

  Turnaround time: 33 working days

• Biotinidase deficiency (BTD gene, NGS)

  Code 10544 · Next-generation sequencing (NGS)

  Genes: BTD

  Turnaround time: 33 working days

• Branchio-oto-renal syndrome type 1 (EYA1 gene, NGS)

  Code 10392 · Next-generation sequencing (NGS)

  Genes: EYA1

  Turnaround time: 33 working days

• Camurati-Engelmann syndrome (TGFB1 gene, NGS)

  Code 10416 · Next-generation sequencing (NGS)

  Genes: TGFB1

  Turnaround time: 33 working days

• CHARGE syndrome (CHD7 gene, NGS)

  Code 10471 · Next-generation sequencing (NGS)

  Genes: CHD7

  Turnaround time: 33 working days

• Chudley-McCullough syndrome (GPSM2 gene, NGS)

  Code 10474 · Next-generation sequencing (NGS)

  Genes: GPSM2

  Turnaround time: 33 working days

• CINCA syndrome (neonatal-onset multisystem inflammatory disease) (NLRP3 gene, NGS)

  Code 10475 · Next-generation sequencing (NGS)

  Genes: NLRP3

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• Cockayne syndrome (2-gene panel, NGS)

  Code 10488 · Next-generation sequencing (NGS)

  Genes: ERCC6, ERCC8

  Turnaround time: 33 working days

• Cockayne syndrome (ERCC6 gene, NGS)

  Code 10489 · Next-generation sequencing (NGS)

  Genes: ERCC6

  Turnaround time: 33 working days

• Cockayne syndrome (ERCC8 gene, NGS)

  Code 10487 · Next-generation sequencing (NGS)

  Genes: ERCC8

  Turnaround time: 33 working days

• Congenital hearing loss (GJB2 and GJB6 genes, sequencing)

  Code 3351 · Sanger sequencing

  Genes: GJB2, GJB6

  Turnaround time: 33 working days

• DNA extraction

  Code 3289 · Extraction

  Genes: Extração de DNA

  Turnaround time: 3 working days

• Donnai-Barrow syndrome (6-gene panel, NGS)

  Code 10799 · Next-generation sequencing (NGS)

  Genes: CLCN5, EFNB1, GPSM2, KIF7, LRP2, OCRL

  Turnaround time: 33 working days

• Ectrodactyly, ectodermal dysplasia and cleft palate, EEC syndrome (TP63 gene, NGS)

  Code 10806 · Next-generation sequencing (NGS)

  Genes: TP63

  Turnaround time: 33 working days

• Exome, complete sequencing

  Code 3208 · Next-generation sequencing (NGS)

  Genes: Exoma

  Turnaround time: 75 working days

• Exome without interpretation (data only), NGS

  Code 3326 · Next-generation sequencing (NGS)

  Genes: Exoma sem análise

  Turnaround time: 33 working days

• Fabry disease (GLA gene, NGS)

  Code 10917 · Next-generation sequencing (NGS)

  Genes: GLA

  Turnaround time: 33 working days

• Facial dysostosis (27-gene panel, NGS)

  Code 10746 · Next-generation sequencing (NGS)

  Genes: ALPL, ALX3, ALX4, CHD7, CREBBP, DHODH, DLL3, EFNB1 and 19 more

  Turnaround time: 33 working days

• Feingold syndrome (MYCN gene, NGS)

  Code 10920 · Next-generation sequencing (NGS)

  Genes: MYCN

  Turnaround time: 33 working days

• Floating-Harbor syndrome (SRCAP gene, NGS)

  Code 10915 · Next-generation sequencing (NGS)

  Genes: SRCAP

  Turnaround time: 33 working days

• Galactose epimerase deficiency (GALE gene, NGS)

  Code 10577 · Next-generation sequencing (NGS)

  Genes: GALE

  Turnaround time: 33 working days