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

774 tests · Page 7 of 26

• Charcot-Marie-Tooth disease type 4J (FIG4 gene, NGS)

  Code 10467 · Next-generation sequencing (NGS)

  Genes: FIG4

  Turnaround time: 33 working days

• Chediak-Higashi syndrome (LYST gene, NGS)

  Code 10472 · Next-generation sequencing (NGS)

  Genes: LYST

  Turnaround time: 33 working days

• CHILD syndrome (NSDHL gene, NGS)

  Code 10473 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Chorea-acanthocytosis (neuroacanthocytosis) (VPS13A gene, NGS)

  Code 10513 · Next-generation sequencing (NGS)

  Genes: VPS13A

  Turnaround time: 33 working days

• Choreoathetosis (6-gene panel, NGS)

  Code 10027 · Next-generation sequencing (NGS)

  Genes: ADCY5, HSD17B10, MR1, NKX2-1, PRRT2, SLC2A1

  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

• Citrullinemia (2-gene panel, NGS)

  Code 10480 · Next-generation sequencing (NGS)

  Genes: SLC25A13, ASS1

  Turnaround time: 33 working days

• CK syndrome (NSDHL gene, NGS)

  Code 10484 · Next-generation sequencing (NGS)

  Genes: NSDHL

  Turnaround time: 33 working days

• Classic citrullinemia (ASS1 gene, NGS)

  Code 10481 · Next-generation sequencing (NGS)

  Genes: ASS1

  Turnaround time: 33 working days

• Clinical exome reanalysis (sequencing)

  Code 3367 · Next-generation sequencing (NGS)

  Turnaround time: 78 working days

• CLN3 gene deletion testing

  Code 3066 · Molecular biology

  Genes: CLN3

  Turnaround time: 11 working days

• CLN7 disease (ceroid lipofuscinosis) (MFSD8 gene, NGS)

  Code 10850 · Next-generation sequencing (NGS)

  Genes: MFSD8

  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

• Coenzyme Q10 deficiency (16-gene panel, NGS)

  Code 10171 · Next-generation sequencing (NGS)

  Genes: ANO10, APTX, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A and 8 more

  Turnaround time: 33 working days

• Coffin-Lowry syndrome (RPS6KA3 gene, NGS)

  Code 10490 · Next-generation sequencing (NGS)

  Genes: RPS6KA3

  Turnaround time: 33 working days

• Cohen syndrome, VPS13B gene c.3348_3349delCT mutation

  Code 10491 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• Cohen syndrome (VPS13B gene, NGS)

  Code 10492 · Next-generation sequencing (NGS)

  Genes: VPS13B

  Turnaround time: 33 working days

• COL4A1 and COL4A2 gene testing (NGS)

  Code 3303 · Next-generation sequencing (NGS)

  Genes: COL4A1, COL4A2

  Turnaround time: 33 working days

• Complete cystic fibrosis (CFTR) gene testing

  Code 3074 · Sequencing

  Genes: CFTR

  Turnaround time: 48 working days

• Complex cortical dysplasia with other brain malformations (KIF21A gene, NGS)

  Code 10665 · Next-generation sequencing (NGS)

  Genes: KIF21A

  Turnaround time: 33 working days

• Congenital central core myopathies (5-gene panel, NGS)

  Code 11130 · Next-generation sequencing (NGS)

  Genes: RYR1, SEPN1, MYH7, ACTA1, TNNT1, CFL2

  Turnaround time: 33 working days

• Congenital central core myopathy (26-gene panel, NGS)

  Code 10012 · Next-generation sequencing (NGS)

  Genes: B3GALNT2, B4GAT1, CHKB, COL12A1, COL6A1, COL6A2, COL6A3, DAG1 and 18 more

  Turnaround time: 33 working days

• Congenital central hypoventilation syndrome (18-gene panel, NGS)

  Code 10031 · Next-generation sequencing (NGS)

  Genes: ASCL1, BDNF, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, COLQ and 10 more

  Turnaround time: 33 working days

• Congenital disorder of glycosylation type 1A (G6PC gene, sequencing)

  Code 3313 · Sanger sequencing

  Genes: G6PC

  Turnaround time: 33 working days

• Congenital fibrosis of the extraocular muscles (4-gene panel, NGS)

  Code 10001 · Next-generation sequencing (NGS)

  Genes: KIF21A, TUBB3, PHOX2A, COL25A1

  Turnaround time: 33 working days

• Congenital fibrosis of the extraocular muscles type 3 (TUBB3 gene, NGS)

  Code 10925 · Next-generation sequencing (NGS)

  Genes: TUBB3

  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