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 19 of 31

• Kabuki syndrome (KMT2D gene, NGS)

  Code 11065 · Next-generation sequencing (NGS)

  Genes: KMT2D

  Turnaround time: 33 working days

• Kallmann syndrome type II (CHD7 gene, NGS)

  Code 11069 · Next-generation sequencing (NGS)

  Genes: CHD7

  Turnaround time: 33 working days

• Kallmann syndrome type II (FGFR1 gene, NGS)

  Code 11070 · Next-generation sequencing (NGS)

  Genes: FGFR1

  Turnaround time: 33 working days

• Kallmann syndrome type I (KAL1 gene, NGS)

  Code 11068 · Next-generation sequencing (NGS)

  Genes: KAL1

  Turnaround time: 33 working days

• Karyotype of peripheral blood lymphocytes

  Code 3004 · Cytogenetic analysis

  Genes: Cariótipo

  Turnaround time: 13 working days

• Karyotype of tissue fibroblasts

  Code 3008 · Cytogenetic analysis

  Genes: Cariótipo

  Turnaround time: 25 working days

• Klippel-Feil syndrome (5-gene panel, NGS)

  Code 11071 · Next-generation sequencing (NGS)

  Genes: GDF3, GDF6, MEOX1, MYO18B, RIPPLY2

  Turnaround time: 33 working days

• Krabbe disease (GALC gene, NGS)

  Code 11072 · Next-generation sequencing (NGS)

  Genes: GALC

  Turnaround time: 33 working days

• Lafora disease (EPM2A gene, NGS)

  Code 11073 · Next-generation sequencing (NGS)

  Genes: EPM2A

  Turnaround time: 33 working days

• Large deletion/duplication testing (1 gene, NGS, CNVs)

  Code 3441 · Next-generation sequencing (NGS) + CNVs

  Turnaround time: 30 working days

• Laron syndrome (GHR gene, NGS)

  Code 11076 · Next-generation sequencing (NGS)

  Genes: GHR

  Turnaround time: 33 working days

• Larsen syndrome (FLNB gene, NGS)

  Code 11077 · Next-generation sequencing (NGS)

  Genes: FLNB

  Turnaround time: 33 working days

• Late infantile neuronal ceroid lipofuscinosis (CLN6 gene, NGS)

  Code 11095 · Next-generation sequencing (NGS)

  Genes: CLN6

  Turnaround time: 33 working days

• Late-onset citrullinemia type II (SLC25A13 gene, NGS)

  Code 10482 · Next-generation sequencing (NGS)

  Genes: SLC25A13

  Turnaround time: 33 working days

• LCAT gene mutation testing

  Code 3077 · Sequencing

  Genes: LCAT

  Turnaround time: 33 working days

• Legius syndrome (neurofibromatosis type 1-like) (SPRED1 gene, NGS)

  Code 11078 · Next-generation sequencing (NGS)

  Genes: SPRED1

  Turnaround time: 33 working days

• LEOPARD syndrome (PTPN11 gene, NGS)

  Code 11079 · Next-generation sequencing (NGS)

  Genes: PTPN11

  Turnaround time: 33 working days

• LEOPARD syndrome (RAF1 gene, NGS)

  Code 11080 · Next-generation sequencing (NGS)

  Genes: RAF1

  Turnaround time: 33 working days

• Leri-Weill dyschondrosteosis (LWD) SHOX (SHOX gene, NGS)

  Code 10649 · Next-generation sequencing (NGS)

  Genes: SHOX

  Turnaround time: 33 working days

• Lethal congenital contracture syndrome type 1 (GLE1 gene, NGS)

  Code 10506 · Next-generation sequencing (NGS)

  Genes: GLE1

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B1 gene, NGS)

  Code 10837 · Next-generation sequencing (NGS)

  Genes: EIF2B1

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B2 gene, NGS)

  Code 10836 · Next-generation sequencing (NGS)

  Genes: EIF2B2

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B3 gene, NGS)

  Code 10834 · Next-generation sequencing (NGS)

  Genes: EIF2B3

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B4 gene, NGS)

  Code 10833 · Next-generation sequencing (NGS)

  Genes: EIF2B4

  Turnaround time: 33 working days

• Leukoencephalopathy with vanishing white matter (EIF2B5 gene, NGS)

  Code 10832 · Next-generation sequencing (NGS)

  Genes: EIF2B5

  Turnaround time: 33 working days

• Limb-girdle muscular dystrophy [next-generation sequencing, 54 genes (NGS)]

  Code 3124 · Next-generation sequencing (NGS)

  Genes: ACADVL, ANO5, BAG3, CAPN3, CAV3, COL6A1, COL6A2, COL6A3 and 46 more

  Turnaround time: 48 working days

• Limb-girdle muscular dystrophy type 2L (anoctamin 5)

  Code 3113 · Sequencing

  Genes: ANO5

  Turnaround time: 43 working days

• Lipid metabolism testing (15-gene panel, NGS)

  Code 3347 · Next-generation sequencing (NGS)

  Genes: ABCA1, ANGPTL3, APOA1, APOA5, APOB, APOC2, APOE, GPIHBP1 and 7 more

  Turnaround time: 33 working days

• Lissencephaly (21-gene panel, NGS)

  Code 11109 · Next-generation sequencing (NGS)

  Genes: ACTB, ACTG1, ARX, ATP6V0A2, CDK5, DCX, FKTN, ISPD and 13 more

  Turnaround time: 33 working days

• Lissencephaly 2, X-linked (ARX gene, NGS)

  Code 11107 · Next-generation sequencing (NGS)

  Genes: ARX

  Turnaround time: 33 working days