Reporting Settings Minimum and Maximum Threshold Values
|
Section |
Field |
Description |
Minimum Value |
Maximum Value |
|---|---|---|---|---|
|
Autosome Monosomy Thresholds |
Chr 1 to 22 |
The threshold for the LLR score for the monosomy of the chromosome. |
0 |
None |
|
Autosome Trisomy Thresholds |
Chr 1 to 20, 22 |
The threshold for the LLR score for the trisomy of the chromosome. |
0 |
None |
|
Autosome Trisomy Thresholds |
Chr 21 |
The threshold for the LLR score for trisomy 21. |
0 |
10 |
|
Sex Chromosome Parameters |
XY |
The threshold for the normalized chromosomal value for a Y chromosome (NCV_Y). A value above this threshold helps indicate the presence of chromosome Y. Refer to Change Sex Chromosome Parameters, Graphs A and B. |
0 |
None |
|
Sex Chromosome Parameters |
Y_FF_INT |
The intercept in the equation used as a threshold to help indicate the presence or absence of chromosome Y. The equation also relies on NCV_Y, Y_FF_Slope, and FF. Refer to Change Sex Chromosome Parameters, Graph A. |
Value set for XY |
None |
|
Sex Chromosome Parameters |
Y_FF_Slope |
The slope in the equation used as a threshold to help indicate the presence or absence of chromosome Y. The equation also relies on NCV_Y, Y_FF_INT, and FF. Refer to Change Sex Chromosome Parameters, Graph A. |
0 |
None |
|
Sex Chromosome Parameters |
XO |
The threshold for the normalized chromosomal value for an X chromosome (NCV_X). A value below this threshold helps indicate the classification of XO in samples identified as having chromosome Y absent. Refer to Change Sex Chromosome Parameters, Graphs B and C. |
None |
0 |
|
Sex Chromosome Parameters |
XXX |
The threshold for NCV_X that helps indicate the classification of XXX in samples identified as having chromosome Y absent. Refer to Change Sex Chromosome Parameters, Graphs B and D. |
0 |
None |
|
Sex Chromosome Parameters |
XYY1 |
The intercept in the equation used as a threshold to help indicate the presence or absence of a second Y chromosome or a second X chromosome. This threshold is only used with samples identified as having chromosome Y present. The equation also relies on NCV_Y, NCV_X, and XYY2. Refer to Change Sex Chromosome Parameters, Graph B. |
Value set for XY |
None |
|
Sex Chromosome Parameters |
XYY2 |
The slope in the equation used as a threshold to help indicate the presence or absence of a second Y chromosome or a second X chromosome. This threshold is only used with samples identified as having chromosome Y present. The equation also relies on NCV_Y, NCV_X, and XYY1. Refer to Change Sex Chromosome Parameters, Graph B. |
None |
0 |
|
Sex Chromosome Parameters |
LLR_X1 |
The threshold for the LLR score for monosomy X. A value above this threshold helps indicate the classification of XO in samples identified as having chromosome Y absent. Refer to Change Sex Chromosome Parameters, Graph C. |
0 |
None |
|
Sex Chromosome Parameters |
LLR_X3 |
The threshold for the LLR score for trisomy X. A value above this threshold helps indicate the classification of XXX in samples identified as having chromosome Y absent. Refer to Change Sex Chromosome Parameters, Graph D. |
0 |
None |
|
Partial Duplications and Deletions |
Threshold |
The threshold for the LLR score for a partial duplication/deletion. |
5 |
None |
