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. Author manuscript; available in PMC: 2011 Jun 21.
Published in final edited form as: Arch Pathol Lab Med. 2009 Feb;133(2):201–216. doi: 10.1043/1543-2165-133.2.201

Table 3.

Genetic Podocytopathies: Genetic Testing Available From CLIA-Certified Laboratories*

Gene Protein Locus CLIA-Certified
Laboratory		 Contact Methodology
NPHS1 Nephrin 19q13.1 Athena Diagnostics,
    Boston, Mass		 www.athenadiagnostics.com Sequence all exons
NPHS2 Podocin 1q25.2 Athena Diagnostics www.athenadiagnostics.com Sequence all exons
WT1 Wilms tumor 1 11p13 Athena Diagnostics;
    University of Colora-
    do, DNA Diagnostic
    Laboratory, Denver		 www.athenadiagnostics.com; elaine.spector@uchsc.edu Sequence all exons
ACTN4 α4-actinin 19q13.2 Center for Nephrology
    and Metabolic Dis-
    orders, Weisswasser,
    Germany		 labor@moldiag.de Sequence all exons
TRPC6 Transient receptor
    potential, cation
    channel, subfam-
    ily C, member 6		 11q22.1 Center for Nephrology
    and Metabolic Dis-
    orders		 labor@moldiag.de Sequence all exons
CD2AP CD2-associated
    protein		 6p12.3 Center for Nephrology
    and Metabolic Dis-
    orders		 labor@moldiag.de Sequence all exons
Mitochondrial
    tRNALeu 		NA NA Athena Diagnostics www.athenadiagnostics.com 11 Mitochondrial DNA sin-
    gle-nucleotide polymor-
    phisms associated with
    neuromuscular disorders,
    including MELAS
*

Academic laboratories carrying out genetic testing, as well as Clinical Laboratory Improvement Amendments (CLIA)–certified laboratories, can be found at www.genetests.org (last accessed May 30, 2008). Permission to publish contact e-mail addresses has been granted by all principal investigators and laboratories. NA indicates not applicable; MELAS, mitochondrial encephalopathy, lactic acidosis, and stroke.