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

187 tests · Page 2 of 7

• Benign familial hypobetalipoproteinemia (PCSK9 gene, NGS)

  Code 11006 · Next-generation sequencing (NGS)

  Genes: PCSK9

  Turnaround time: 33 working days

• Biotinidase deficiency (BTD gene, NGS)

  Code 10544 · Next-generation sequencing (NGS)

  Genes: BTD

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome, c.1285delC and c.1285dupC mutations, FLCN gene

  Code 10376 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, NGS)

  Code 10377 · Next-generation sequencing (NGS)

  Genes: FLCN

  Turnaround time: 33 working days

• Blau syndrome (NOD2 gene, NGS)

  Code 10387 · Next-generation sequencing (NGS)

  Genes: NOD2

  Turnaround time: 33 working days

• Branchio-oculo-facial syndrome (TFAP2A gene, NGS)

  Code 10391 · Next-generation sequencing (NGS)

  Genes: TFAP2A

  Turnaround time: 33 working days

• BRESEK syndrome (MBTPS2 gene, NGS)

  Code 10399 · Next-generation sequencing (NGS)

  Genes: MBTPS2

  Turnaround time: 33 working days

• Bruck syndrome (PLOD2 gene, NGS)

  Code 10400 · Next-generation sequencing (NGS)

  Genes: PLOD2

  Turnaround time: 33 working days

• Bullous congenital ichthyosiform erythroderma (KRT10 gene, NGS)

  Code 10893 · Next-generation sequencing (NGS)

  Genes: KRT10

  Turnaround time: 33 working days

• Bullous congenital ichthyosiform erythroderma (KRT1 gene, NGS)

  Code 10894 · Next-generation sequencing (NGS)

  Genes: KRT1

  Turnaround time: 33 working days

• Cantú syndrome (ABCC9 gene, NGS)

  Code 10419 · Next-generation sequencing (NGS)

  Genes: ABCC9

  Turnaround time: 33 working days

• Cardiofaciocutaneous syndrome (4-gene panel, NGS)

  Code 10421 · Next-generation sequencing (NGS)

  Genes: KRAS, BRAF, MAP2K1, MAP2K2

  Turnaround time: 33 working days

• Chediak-Higashi syndrome (LYST gene, NGS)

  Code 10472 · Next-generation sequencing (NGS)

  Genes: LYST

  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

• 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 erythropoietic porphyria (UROS gene, NGS)

  Code 11302 · Next-generation sequencing (NGS)

  Genes: UROS

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 1 (AGPAT2 gene, NGS)

  Code 11090 · Next-generation sequencing (NGS)

  Genes: AGPAT2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 2 (BSCL2 gene, NGS)

  Code 11091 · Next-generation sequencing (NGS)

  Genes: BSCL2

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 3 (CAV1 gene, NGS)

  Code 11092 · Next-generation sequencing (NGS)

  Genes: CAV1

  Turnaround time: 33 working days

• Congenital generalized lipodystrophy (Berardinelli-Seip) type 4 (PTRF gene, NGS)

  Code 11093 · Next-generation sequencing (NGS)

  Genes: PTRF

  Turnaround time: 33 working days

• Congenital ichthyosis, harlequin fetus type (ABCA12 gene, NGS)

  Code 11048 · Next-generation sequencing (NGS)

  Genes: ABCA12

  Turnaround time: 33 working days

• Connective tissue disorders (WES-based panel, NGS, CNVs)

  Code 3473 · Next-generation sequencing (NGS) + CNVs

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 30 working days

• Costello syndrome (HRAS gene, NGS)

  Code 10519 · Next-generation sequencing (NGS)

  Genes: HRAS

  Turnaround time: 33 working days

• Crouzon syndrome (FGFR2 gene, NGS)

  Code 10529 · Next-generation sequencing (NGS)

  Genes: FGFR2

  Turnaround time: 33 working days

• C syndrome (CD96 gene, NGS)

  Code 10403 · Next-generation sequencing (NGS)

  Genes: CD96

  Turnaround time: 33 working days

• Darier disease (ATP2A2 gene, NGS)

  Code 10530 · Next-generation sequencing (NGS)

  Genes: ATP2A2

  Turnaround time: 33 working days

• Deficiency of the interleukin-1 receptor antagonist (IL1RN gene, NGS)

  Code 10554 · Next-generation sequencing (NGS)

  Genes: IL1RN

  Turnaround time: 33 working days

• Dyskeratosis congenita (8-gene panel, NGS)

  Code 10698 · Next-generation sequencing (NGS)

  Genes: CTC1, DKC1, NHP2, NOP10, TERC, TERT, TINF2, WRAP53

  Turnaround time: 33 working days