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

911 tests · Page 5 of 31

• Bardet-Biedl syndrome type 9 (BBS9 gene, NGS)

  Code 10357 · Next-generation sequencing (NGS)

  Genes: BBS9

  Turnaround time: 33 working days

• Bartsocas-Papas syndrome (RIPK4 gene, NGS)

  Code 10362 · Next-generation sequencing (NGS)

  Genes: RIPK4

  Turnaround time: 33 working days

• Bartter syndrome and Gitelman syndrome (gene panel, NGS)

  Code 3504 · Next-generation sequencing (NGS)

  Genes: Genes de acordo com as Guidelines internacionais

  Turnaround time: 33 working days

• Bartter syndrome type 3 (CLCNKB gene, NGS)

  Code 10365 · Next-generation sequencing (NGS)

  Genes: CLCNKB

  Turnaround time: 33 working days

• Bartter syndrome type 4B (CLCNKA gene, NGS)

  Code 10367 · Next-generation sequencing (NGS)

  Genes: CLCNKA

  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

• Beckwith-Wiedemann syndrome (CDKN1C gene, NGS)

  Code 10370 · Next-generation sequencing (NGS)

  Genes: CDKN1C

  Turnaround time: 33 working days

• Benign familial hypobetalipoproteinemia (APOB gene, NGS)

  Code 11008 · Next-generation sequencing (NGS)

  Genes: APOB

  Turnaround time: 33 working days

• Benign familial hypobetalipoproteinemia (MTTP gene, NGS)

  Code 11007 · Next-generation sequencing (NGS)

  Genes: MTTP

  Turnaround time: 33 working days

• Benign familial neonatal epilepsy (KCNQ2 gene, NGS)

  Code 10888 · Next-generation sequencing (NGS)

  Genes: KCNQ2

  Turnaround time: 33 working days

• Benign familial neonatal epilepsy (KCNQ3 gene, NGS)

  Code 10887 · Next-generation sequencing (NGS)

  Genes: KCNQ3

  Turnaround time: 33 working days

• Benign familial neonatal-infantile seizures (KCNQ2 gene, NGS)

  Code 10508 · Next-generation sequencing (NGS)

  Genes: KCNQ2

  Turnaround time: 33 working days

• Benign familial neonatal-infantile seizures (KCNQ3 gene, NGS)

  Code 10510 · Next-generation sequencing (NGS)

  Genes: KCNQ3

  Turnaround time: 33 working days

• Benign familial neonatal-infantile seizures (PRRT2 gene, NGS)

  Code 10509 · Next-generation sequencing (NGS)

  Genes: PRRT2

  Turnaround time: 33 working days

• Benign familial neonatal-infantile seizures (SCN2A gene, NGS)

  Code 10507 · Next-generation sequencing (NGS)

  Genes: SCN2A

  Turnaround time: 33 working days

• Beta-thalassemia (HBB gene, NGS)

  Code 10375 · Next-generation sequencing (NGS)

  Genes: HBB

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (c.1285 mutation)

  Code 3143 · Sequencing

  Genes: FLCN

  Turnaround time: 33 working days

• Birt-Hogg-Dubé syndrome (familial variant)

  Code 3144 · Sequencing

  Genes: FLCN

  Turnaround time: 24 working days

• Birt-Hogg-Dubé syndrome (FLCN gene, 14 exons, sequencing)

  Code 3299 · Sanger sequencing

  Genes: FLCN, 14 exões

  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

• BRAF gene mutation analysis

  Code 3072 · PCR

  Genes: BRAF

  Turnaround time: 13 working days

• Brain demyelination due to methionine adenosyltransferase deficiency (MAT1A gene, NGS)

  Code 10625 · Next-generation sequencing (NGS)

  Genes: MAT1A

  Turnaround time: 33 working days