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

453 tests · Page 3 of 16

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

  Code 10369 · Next-generation sequencing (NGS)

  Genes: FBN2

  Turnaround time: 33 working days

• Beckwith-Wiedemann syndrome (CDKN1C gene, NGS)

  Code 10370 · Next-generation sequencing (NGS)

  Genes: CDKN1C

  Turnaround time: 33 working days

• Blomstrand chondrodysplasia (PTH1R gene, NGS)

  Code 10504 · Next-generation sequencing (NGS)

  Genes: PTH1R

  Turnaround time: 33 working days

• Bloom syndrome (BLM gene, NGS)

  Code 10389 · Next-generation sequencing (NGS)

  Genes: BLM

  Turnaround time: 33 working days

• BNAR syndrome (FREM1 gene, NGS)

  Code 10390 · Next-generation sequencing (NGS)

  Genes: FREM1

  Turnaround time: 33 working days

• Brachydactyly-mental retardation syndrome (HDAC4 gene, NGS)

  Code 10397 · Next-generation sequencing (NGS)

  Genes: HDAC4

  Turnaround time: 33 working days

• Brachydactyly type B2 (NOG gene, NGS)

  Code 10393 · Next-generation sequencing (NGS)

  Genes: NOG

  Turnaround time: 33 working days

• Brachydactyly type E (GPC1 gene, NGS)

  Code 10396 · Next-generation sequencing (NGS)

  Genes: GPC1

  Turnaround time: 33 working days

• Brachydactyly type E (HOXD13 gene, NGS)

  Code 10394 · Next-generation sequencing (NGS)

  Genes: HOXD13

  Turnaround time: 33 working days

• Brachydactyly type E (PTHLH gene, NGS)

  Code 10395 · Next-generation sequencing (NGS)

  Genes: PTHLH

  Turnaround time: 33 working days

• Brachyolmia type 3 (TRPV4 gene, NGS)

  Code 10398 · Next-generation sequencing (NGS)

  Genes: TRPV4

  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

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

  Code 10392 · Next-generation sequencing (NGS)

  Genes: EYA1

  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

• Campomelic dysplasia (SOX9 gene, NGS)

  Code 10664 · Next-generation sequencing (NGS)

  Genes: SOX9

  Turnaround time: 33 working days

• Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (PRG4 gene, NGS)

  Code 10415 · Next-generation sequencing (NGS)

  Genes: PRG4

  Turnaround time: 33 working days

• Camurati-Engelmann syndrome (TGFB1 gene, NGS)

  Code 10416 · Next-generation sequencing (NGS)

  Genes: TGFB1

  Turnaround time: 33 working days

• Canavan disease (ASPA gene, NGS)

  Code 10418 · Next-generation sequencing (NGS)

  Genes: ASPA

  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

• CATCH 22 testing (EDTA whole blood) [DiGeorge syndrome]

  Code 3051 · Cytogenetic analysis

  Genes: FISH deleção da região 22q11.2

  Turnaround time: 12 working days

• Caudal regression syndrome (VANGL1 gene, NGS)

  Code 11330 · Next-generation sequencing (NGS)

  Genes: VANGL1

  Turnaround time: 33 working days

• CHARGE syndrome (CHD7 gene, NGS)

  Code 10471 · Next-generation sequencing (NGS)

  Genes: CHD7

  Turnaround time: 33 working days

• Char syndrome (TFAP2B gene, NGS)

  Code 10435 · Next-generation sequencing (NGS)

  Genes: TFAP2B

  Turnaround time: 33 working days

• CHILD syndrome (NSDHL gene, NGS)

  Code 10473 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Chondrodysplasia punctata (9-gene panel, NGS)

  Code 10501 · Next-generation sequencing (NGS)

  Genes: AGPS, ARSE, CSTA, GNPAT, KRT6A, KRT6B, LBR, PEX14 and 1 more

  Turnaround time: 33 working days

• Chondrodysplasia with congenital joint dislocations (CHST3 gene, NGS)

  Code 10498 · Next-generation sequencing (NGS)

  Genes: CHST3

  Turnaround time: 33 working days

• Chromosomal microarray analysis, SNPs, 750K, postnatal testing

  Code 3291 · Comparative genomic hybridization

  Genes: CGH

  Turnaround time: 33 working days

• Chromosomal microarray analysis, SNPs, 750K, prenatal testing

  Code 3292 · Comparative genomic hybridization

  Genes: CGH

  Turnaround time: 33 working days