Documentation of the specific familial variants is required and must be provided with the specimen in order to perform this test. Consultation with the laboratory is required prior to ordering this test.
Note: analysis of the area surrounding the familial variant may be required in the performance of this assay, which could result in identification of additional variants. Contact the laboratory at 800-533-1710 with any questions regarding assay performance.
The preferred specimen for this test is whole blood. Other specimens may be acceptable for certain genes as follows.
The following genes are available for testing on the blood spot specimen type:
ABCD1, ACADM, ACADS, ACADVL, ARSA, ARSB, CFTR*, CPT2, CPOX, FECH, FTCD, GAA, GALT, GALC, GBA, GLA, GNS, HMBS, IDS, IDUA, MMACHC, MMADHC, NAGLU, PPOX, SGSH, SLC25A20, SMN1, SMPD1, and SUMF1
*Note: CFTR deletion/duplication analysis is not offered on dried blood spot specimens.
The following genes are available for testing on fibroblasts and skin biopsy specimen types:
ABCD1, ACADM, ACADS, ACADVL, APOA1, APOA2, ARSA, ARSB, ATP7B, BTD, CDKN1C, CPOX, CPT2, CTRC, FECH, FGA, FTCD, GAA, GALC, GALT, GBA, GLA, GNPTAB, GNS, GRN, GSN, HEXA, HMBS, IDS, IDUA, LYZ, MAPT, MMACHC, MMADHC, NAGLU, PKHD1, PPOX, PRSS1, RET, SCG5, SGSH, SLC25A20, SMN1, SMPD1, SPINK1, SUMF1, TTR, and UBE3A
Due to the complexity of prenatal testing, consultation with the laboratory is required for all prenatal testing.
The following genes are available for testing on prenatal specimen types:
ABCD1, AGXT, ARSA, ARSB, BTD, CDKN1C, CFTR, CPT2, GLA, GALC, GALT, GBA, GNPTAB, GNS, GRHPR, HEXA, IDS, IDUA, MLYCD, MMACHC, MMADHC, NAGLU, NPC1, NPC2, PKHD1, SGSH, SLC25A20, SMN1, SMPD1, SUMF1, and UBE3A. Contact the laboratory to inquire about genes not included on this list.
