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

125 tests · Page 3 of 5

• Dominant hypophosphatemia with nephrolithiasis or osteoporosis (SLC34A1 gene, NGS)

  Code 11017 · Next-generation sequencing (NGS)

  Genes: SLC34A1

  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

• Familial amyloidosis, Finnish type (GSN gene, NGS)

  Code 10233 · Next-generation sequencing (NGS)

  Genes: GSN

  Turnaround time: 33 working days

• Familial amyloidosis, p.Val50Met (V30M) mutation, TTR gene

  Code 10231 · Next-generation sequencing (NGS)

  Genes: TTR

  Turnaround time: 33 working days

• Familial amyloidosis (TTR gene, NGS)

  Code 10232 · Next-generation sequencing (NGS)

  Genes: TTR

  Turnaround time: 33 working days

• Familial Hibernian fever (periodic fever, autosomal dominant) (TNFRSF1A gene, NGS)

  Code 10912 · Next-generation sequencing (NGS)

  Genes: TNFRSF1A

  Turnaround time: 33 working days

• Familial Mediterranean fever (MEFV gene, NGS)

  Code 10913 · Next-generation sequencing (NGS)

  Genes: MEFV

  Turnaround time: 33 working days

• Familial renal cancer (15-gene panel, NGS)

  Code 10044 · Next-generation sequencing (NGS)

  Genes: FH, FLCN, HNF1A, HRAS, MET, MLH1, MSH2, MSH6 and 7 more

  Turnaround time: 33 working days

• Familial thrombotic thrombocytopenic purpura, Upshaw-Schulman syndrome (ADAMTS13 gene, NGS)

  Code 11325 · Next-generation sequencing (NGS)

  Genes: ADAMTS13

  Turnaround time: 33 working days

• Fanconi-Bickel syndrome (SLC2A2 gene, NGS)

  Code 10919 · Next-generation sequencing (NGS)

  Genes: SLC2A2

  Turnaround time: 33 working days

• Finnish congenital nephrosis (nephrotic syndrome type 1) (NPHS1 gene, NGS)

  Code 11162 · Next-generation sequencing (NGS)

  Genes: NPHS1

  Turnaround time: 33 working days

• Focal segmental glomerulonephritis (57-gene panel, NGS)

  Code 10937 · Next-generation sequencing (NGS)

  Genes: ACSL4, ACTN4, ALG1, ANLN, APOE, APOL1, ARHGAP24, ARHGDIA and 49 more

  Turnaround time: 33 working days

• Genetic testing for familial Mediterranean fever (MEFV gene)

  Code 3117 · MLPA / PCR

  Genes: MEFV

  Turnaround time: 33 working days

• Genetic testing for iron overload disorders

  Code 3340 · Next-generation sequencing (NGS)

  Genes: ATN1, ATP13A2, ATP7B, C19orf12, COASY, CP, DCAF17, FA2H and 12 more

  Turnaround time: 33 working days

• Genetic testing for spastic paraplegia SPG7 (paraplegin)

  Code 3116 · PCR / Sequencing

  Genes: SPG7

  Turnaround time: 35 working days

• Gitelman syndrome (2-gene panel, NGS)

  Code 10936 · Next-generation sequencing (NGS)

  Genes: SLC12A3, CLCNKB

  Turnaround time: 33 working days

• Gitelman syndrome (SLC12A3 gene, NGS)

  Code 10935 · Next-generation sequencing (NGS)

  Genes: SLC12A3

  Turnaround time: 33 working days

• GLOW syndrome (tissue mosaicism) (DICER1 gene, NGS)

  Code 10062 · Next-generation sequencing (NGS)

  Genes: DICER1

  Turnaround time: 33 working days

• GM1 gangliosidosis type 1 (GLB1 gene, NGS)

  Code 10931 · Next-generation sequencing (NGS)

  Genes: GLB1

  Turnaround time: 33 working days

• Hemolytic uremic syndrome (CFH gene, NGS)

  Code 10789 · Next-generation sequencing (NGS)

  Genes: CFH

  Turnaround time: 33 working days

• Hereditary amyloidosis (10-gene panel, NGS)

  Code 10086 · Next-generation sequencing (NGS)

  Genes: APOA1, APOA2, APP, B2M, CST3, FGA, GSN, ITM2B and 2 more

  Turnaround time: 33 working days

• Hereditary kidney diseases (15-gene panel, NGS)

  Code 10183 · Next-generation sequencing (NGS)

  Genes: PKD1, PKD2, PKHD1, UMOD, MUC1, REN, HNF1B, NPHP1 and 7 more

  Turnaround time: 33 working days

• Hereditary prostate cancer

  Code 4008 · NGS, Sanger sequencing, MLPA

  Genes: ATM,BRCA1,BRCA2,CHEK2,EPCAM,HOXB13,MSH2,MSH6,MLH1,PALB2,PMS2 + MLPA genes BRCA1 e BRCA2 com inserção Alu;

  Turnaround time: 30 working days

• Hereditary spastic paraplegia (77-gene panel, NGS)

  Code 3219 · Next-generation sequencing (NGS)

  Genes: ABCD1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AMPD2, AP4B1 and 69 more

  Turnaround time: 48 working days

• HRPT2 gene testing

  Code 3084 · PCR / Sequencing

  Genes: HRPT2

  Turnaround time: 63 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

• Joubert syndrome type 7 (RPGRIP1L gene, NGS)

  Code 11062 · Next-generation sequencing (NGS)

  Genes: RPGRIP1L

  Turnaround time: 33 working days

• Kabuki syndrome (KMT2D gene, familial variant) [amniotic fluid]

  Code 3212 · Sequencing

  Genes: KMT2D, mutação familiar

  Turnaround time: 24 working days